cover image European Journal of Neurology

European Journal of Neurology

2020 - Volume 27
Issue 11 | November 2020
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Article first published online:
13 Oct 2020 | DOI: 10.1111/ene.14001

Letters to the Editor

Childhood‐onset dystonia with cerebellar signs: expanding the spectrum of mutations

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Authors:
R. Erro, A. Di Fonzo, M. Percetti, E. Monfrini, S. Scannapieco, M. Picillo and P. Barone
Article first published online:
03 Apr 2020 | DOI: 10.1111/ene.14220

Letters To The Editor

Serum neurofilament light chain in patients with amyotrophic lateral sclerosis

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Authors:
T. Kawada
Article first published online:
10 Apr 2020 | DOI: 10.1111/ene.14223

Case Study

Background and purpose

Glial fibrillary acidic protein (GFAP) is an intracellular protein of the astrocytic cytoskeleton. Recently, autoantibodies to GFAP detected by cell‐based assay in cerebrospinal fluid (CSF) or serum have been implicated in cerebral astrocytopathy, presenting predominantly with autoimmune meningoencephalomyelitis. However, the phenotypic spectrum, prognosis and therapeutics of this new entity remain to be elucidated.

Methods

Herein, we report radiological, CSF and serological findings during disease exacerbation and remission, from a patient with autoimmune GFAP astrocytopathy, presenting as an immunotherapy responsive GFAP IgG‐associated meningoencephalomyelitis.

Results

Brain and spine magnetic resonance imaging revealed meningeal enhancement, T2 hyperintensities, black holes, significant sulci widening and spinal atrophy. In addition, high levels of neurofilaments (NfL) and GFAP were also identified during disease exacerbation, consistent with the appearance of the black holes.

Conclusions

To date, black holes and atrophy have never been reported before in autoimmune GFAP astrocytopathy. These findings, combined with the high levels of GFAP and NfL, suggest the existence of an underlying neurodegenerative mechanism in addition to the known inflammatory response. Further studies are needed to elucidate the pathomechanism of GFAP‐astrocytopathies.

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Authors:
A. Papa, J. S. Tzartos, G. Sakoutis, E. Dardiotis, E. Alexiou, M. Breza, G. Velonakis, P. Papamichalis, D. Mpampalis, A. Komnos, A. Karagiorgou, A. Papakonstantinou, C. Kilidireas and G. M. Hadjigeorgiou
Article first published online:
13 Oct 2020 | DOI: 10.1111/ene.14244

Letter To The Editor

Acute concomitant presentation of polymyositis and atypical myasthenia gravis: a diagnostic challenge

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Authors:
E. Natera‐Villalba, I. Corral‐Corral, L. Cabañes, H. Pian and F. J. Buisán‐Catevilla
Article first published online:
12 May 2020 | DOI: 10.1111/ene.14263

Short Communication

Background and purpose

Accumulated failures in Alzheimer’s disease (AD) clinical trials have highlighted an urgent need to identify additional biomarkers involved in AD. Recently, mounting evidence reported that autoantibodies are ubiquitous in human sera. However, it is unknown whether autoantibodies are upregulated in amyloid‐tau biomarker‐confirmed AD.

Methods

A total of 40 subjects with mild dementia (Clinical Dementia Rating = 1) were stratified into AD ( = 16) and non‐AD ( = 24) groups according to their cerebrospinal fluid levels of tau and Aβ. Their sera were collected and analyzed using a microarray containing > 1600 potential human autoantigens. Autoantibodies that were present exclusively in the AD group were identified and selected using the penetrance‐based fold change method with the following criteria: penetrance fold change ≥ 2, frequency ≥ 15% and frequency = 0%.

Results

All controls and samples passed the quality control criteria and were further used for biomarker analysis. Six autoantibodies with elevated responses to the following autoantigens were found exclusively in the AD group: nucleosome assembly protein 1‐like 3 (31.3%, 5/16 subjects) and microtubule‐associated protein 4, pantothenic acid kinase 3, phosphoinositide‐3‐kinase regulatory subunit 1, protein tyrosine phosphatase type IVA member 1 and SRY (sex‐determining region Y)‐box 15 (all 18.8%, 3/16 subjects).

Conclusions

Although some identified autoantigens are linked to AD and cognitive dysfunction, the increased autoantibody levels have not been reported in AD. Autoantibodies may provide deeper insights into the pathogenesis of AD and serve as diagnostic biomarkers; their corresponding antigens can be further studied to assess their potential as therapeutic targets.

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Authors:
B. Z. Wang, F. Z. Zailan, B. Y. X. Wong, K. P. Ng and N. Kandiah
Article first published online:
25 May 2020 | DOI: 10.1111/ene.14290

Letters To The Editor

Unusual early‐onset and severe adrenomyeloneuropathy in women

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Authors:
C. Azar, D. Cheillan and Y. Nadjar
Article first published online:
04 Jun 2020 | DOI: 10.1111/ene.14297

Letters To The Editor

Ten myths about functional neurological disorder

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Authors:
S. C. Lidstone, R. Araújo, J. Stone and B. R. Bloem
Article first published online:
04 Jun 2020 | DOI: 10.1111/ene.14310

Short Communication

Background and purpose

Although Labrune syndrome is a well‐known disorder characterized by a typical neuroradiological triad, namely leukoencephalopathy, intracranial calcifications and cysts, there are no reports of systemic involvement in this disorder. This paper attempts to describe a peculiar clinical manifestation related to a novel mutation in the gene.

Methods

Clinical examination, brain and total‐body imaging, and neurophysiological and ophthalmological investigations were performed. Amplification of the gene and Sanger sequencing were integrated to investigate potential causative mutations.

Results

A 69‐year‐old woman, with a long history of episodes of vertigo and gait imbalance, was referred to our hospital for progressive cognitive and motor deterioration. Computed tomography and magnetic resonance imaging disclosed diffuse bilateral leukoencephalopathy in periventricular and deep white matter, widespread calcifications and numerous cysts in the brain, liver, pancreas and kidneys. The genetic analysis revealed two biallelic variants in the gene, one of which is novel (n.60G>C).

Conclusions

This is the first report of adult‐onset Labrune syndrome with an unusual systemic involvement presenting a novel mutation in the gene.

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Authors:
G. Bonomo, E. Monfrini, L. Borellini, R. Bonomo, F. Arienti, M. C. Saetti, A. Di Fonzo and M. Locatelli
Article first published online:
02 Jun 2020 | DOI: 10.1111/ene.14313

Original Article

Background and purpose

The corticobulbar tract is a potential neural pathway involved in swallowing. The frontal operculum, insular cortex, corona radiata and internal capsule, which are frequently involved in middle cerebral artery (MCA) strokes, are locations in which lesions cause dysphagia. However, it is unclear whether the locations are linked to the corticobulbar tract or whether corticobulbar tract integrity is associated with dysphagia severity. This study aimed to assess the association between corticobulbar tract integrity and dysphagia severity after MCA stroke.

Methods

Thirty dysphagic patients after MCA stroke and 27 healthy controls were examined. Diffusion tensor imaging (DTI)‐derived parameters of the corticobulbar tract were compared between patient and control groups. Next, patients were divided into mild and moderate‐to‐severe dysphagia groups, and DTI‐derived parameters of the corticobulbar tract were compared between the subgroups. Logistic regression analysis was used to determine the association between corticobulbar tract integrity and dysphagia severity.

Results

The tract volume (TV) of the affected corticobulbar tract was lower in dysphagic patients than in healthy controls ( < 0.001). According to dysphagia severity, TV of the unaffected corticobulbar tract was higher in the mild dysphagia group than in the moderate‐to‐severe dysphagia group ( = 0.012). TV of the unaffected corticobulbar tract was independently associated with dysphagia severity according to the logistic regression model (adjusted odds ratio 0.817, 95% confidence interval 0.683–0.976).

Conclusions

The corticobulbar tract was affected after MCA stroke and may be associated with dysphagia. A higher corticobulbar TV in the unaffected hemisphere was indicative of better swallowing function in dysphagic patients after MCA stroke.

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Authors:
S. Im, Y.J. Han, S.‐H. Kim, M.‐J. Yoon, J. Oh and Y. Kim
Article first published online:
11 Jul 2020 | DOI: 10.1111/ene.14387

Original Article

Background and purpose

Fifteen percent of patients with myasthenia gravis (MG) are refractory to conventional treatment. Case reports and a few studies show probable benefit of rituximab in these cases. Our objective was to assess the efficacy and the safety of rituximab in patients with MG, in a multicentric real‐life study.

Method

Inclusion criteria were: age > 18 years; MG with anti‐acetylcholine receptor (AChR) antibodies, anti‐muscle‐specific kinase (MuSk) antibodies or significant decrement after repetitive nerve stimulation; Myasthenia Gravis Foundation of America (MGFA) class >II; refractory or steroid‐dependent MG; and treatment with rituximab. Efficacy was assessed at 6 months using the MGFA‐post‐intervention status (PIS) score, the myasthenic muscle score (MMS) and the number of patients receiving steroids <10 mg/day. Data on adverse events were collected.

Results

Twenty‐nine patients were included: 20 with anti‐AChR MG, five with anti‐MuSK MG and four with seronegative MG. MGFA‐PIS score was improved or better (improved, minimal manifestations or remission) in 86.2% of patients after 6 months of treatment ( < 0.0001). The mean MMS increased from 68.8 to 83.1 ( < 0.0001). A decrease in steroid dosage (<10 mg/day) was effective in 57.9% of treated patients. In all, 42.8% of patients experienced adverse events: infections (21.4% of patients); infusion reaction (7%); bradycardia (3.7%); and cytopenia (7%).

Conclusion

The present study demonstrates the efficacy and safety of rituximab in patients with MG. Additional studies remain necessary to determine the role of rituximab in the pharmacopeia of MG treatment and to establish precise recommendations for the infusion protocol.

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Authors:
A. Dos Santos, J. ‐B. Noury, S. Genestet, A. Nadaj‐Pakleza, J. Cassereau, C. Baron, D. Videt, L. Michel, Y. Pereon, S. Wiertlewski and A. Magot
Article first published online:
04 Jul 2020 | DOI: 10.1111/ene.14391

Letters To The Editor

Cut‐off scores of blink reflex recovery cycle to differentiate atypical parkinsonisms

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Authors:
G. Sciacca, G. Mostile, A. Nicoletti, S. Salomone, F. Drago and M. Zappia
Article first published online:
30 Jun 2020 | DOI: 10.1111/ene.14392

Letters To The Editor

What did we learn from the previous coronavirus epidemics and what can we do better: a neuroinfectiological point of view

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Authors:
T. Akhvlediani, I. Jelcic, P. Taba, B. Pfausler, I. Steiner and J. Sellner
Article first published online:
24 Jul 2020 | DOI: 10.1111/ene.14395

Original Article

Background and purpose

The safety of early initiation of anticoagulant therapy in patients with ischaemic stroke related to atrial fibrillation (AF) is unknown. We investigated the safety of early initiation of direct oral anticoagulants (DOACs), vitamin K antagonists (VKAs) or no anticoagulation.

Methods

This observational, retrospective, single‐centre study included consecutive patients with recent (<4 weeks) ischaemic stroke and AF. The primary outcome was the rate of major (intracranial and extracranial) bleeding in patients on different treatment schemes, i.e. DOACs, VKAs and not anticoagulated. We also investigated the rate of ischaemic cerebrovascular events and mortality.

Results

We included 959 consecutive patients with AF and ischaemic stroke followed up for an average of 16.1 days after the index event. A total of 559 out of 959 patients (58.3%) were anticoagulated with either VKAs ( = 259) or DOACs ( = 300). Anticoagulation was started after a mean of 7 ± 9.4 days in the DOAC group and 11.9 ± 19.7 days in the VKA group. Early initiation of any anticoagulant was not associated with an increased risk of any major bleeding [odds ratio (OR), 0.49; 95% confidence intervals (CI), 0.21–1.16] and in particular of intracranial bleeding (OR, 0.47; 95% CI, 0.17–1.29;  = 0.143) compared with no anticoagulation. In contrast to VKAs (OR, 0.78; 95% CI, 0.28–2.13), treatment with DOACs (OR, 0.32; 95% CI, 0.10–0.96) reduced the rate of major bleeding compared with no anticoagulation. Early recurrences of ischaemic stroke did not differ significantly among the three groups.

Conclusions

Starting DOACs within a mean of 7 days after stroke appeared to be safe. Randomized controlled studies are needed to establish the added efficacy of starting anticoagulation early after stroke.

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Authors:
L. D'Anna, F. T. Filippidis, S. Antony, Z. Brown, H. Wyatt, A. Malik, P. Sivakumaran, K. Harvey, M. Marinescu, P. Bentley, E. Korompoki and R. Veltkamp
Article first published online:
12 Jul 2020 | DOI: 10.1111/ene.14396

Original Article

Background and purpose

The single simple question (SSQ) is a simple and validated question asking what percentage of normal a patient feels with respect to their myasthenia gravis (MG), with 100% being normal. Patient acceptable symptom states (PASS) are based on a dichotomous ‘Yes’ or ‘No’ response, asking whether a patient is satisfied overall with their current status and thus measures holistic satisfaction with their MG state. Both are patient‐reported self‐assessments but assess different dimensions of MG. The objective was to determine thresholds for the SSQ when patients with MG achieve an acceptable PASS status.

Methods

A retrospective chart review was performed of consecutive MG patients attending a neuromuscular clinic, and SSQ and PASS responses, demographic, clinical and serological characteristics and disease severity by the MG impairment index were extracted.

Results

One hundred and fifty‐seven consecutive patients were identified: 43 (27.4%) patients responded ‘No’ to the PASS question. Between the PASS ‘Yes’/‘No’ groups, only SSQ (87.5 ± 13.4 vs. 52.3 ± 23.3;  < 0.001) and MG impairment index scores (9.2 ± 10.3 vs. 29.6 ± 16;  < 0.001) were significantly different. The receiver operating characteristic curve for PASS and SSQ had an area under the curve of 0.92 ± 0.024 (confidence interval 0.872–0.965,  < 0.001). An SSQ score ≥72.5% had 84.2% sensitivity and 86% specificity to classify patients as PASS positive.

Conclusion

The PASS and SSQ patient‐reported outcomes are closely associated and a SSQ threshold ≥72.5% predicts an acceptable MG state. Other demographic and disease‐related factors did not influence the PASS response in this study.

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Authors:
D. Menon, C. Barnett and V. Bril
Article first published online:
16 Jul 2020 | DOI: 10.1111/ene.14397

Original Article

Background and purpose

Gastrointestinal inflammation has been implicated in Parkinson's disease (PD). The aim of this study was to examine whether individuals with a history of infection (CDI) are at elevated risk of PD.

Methods

We performed a population‐based cohort study using Swedish national register data. Adults aged ≥35 years were identified from the Swedish Population and Housing Census 1990 and followed during the period 1997–2013. Diagnoses of CDI and PD were extracted from the National Patient Register. Associations of CDI history with PD risk were estimated using Cox proportional hazards regression. We also explored whether the association differed by the source of CDI diagnosis (inpatient vs. outpatient), presence of recurrent infections, and pre‐infection use of antibiotics.

Results

Amongst the study population ( = 4 670 423), 34 868 (0.75%) had a history of CDI. A total of 165 and 47 035 incident PD cases were identified from individuals with and without CDI history, respectively. Across the entire follow‐up, a 16% elevation of PD risk was observed among the CDI group [hazard ratio 1.16, 95% confidence interval (CI)1.00–1.36], which was mainly driven by increased PD risk within the first 2 years after CDI diagnosis (hazard ratio 1.38, 95% CI 1.12–1.69). In longer follow‐up, CDI was not associated with subsequent PD occurrence. This temporal pattern of CDI–PD associations was generally observed across all CDI subgroups.

Conclusions

may be associated with an increased short‐term PD risk, but this might be explained by reverse causation and/or surveillance bias. Our results do not imply that CDI history affects long‐term PD risk.

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Authors:
X. Kang, A. Ploner, J. F. Ludvigsson, D. M. Williams, H. Larsson, N. L. Pedersen and K. Wirdefeldt
Article first published online:
09 Jul 2020 | DOI: 10.1111/ene.14400

Original Article

Background and purpose

Very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) is a hereditary disorder of mitochondrial long‐chain fatty acid oxidation that has variable presentations, including exercise intolerance, cardiomyopathy and liver disease. The aim of this study was to describe the clinical and genetic manifestations of six patients with adult‐onset VLCADD.

Methods

In this study, the clinical, pathological and genetic findings of six adult patients (four from Iran and two from Serbia) with VLCADD and their response to treatment are described.

Results

The median (range) age of patients at first visit was 31 (27–38) years, and the median (range) age of onset was 26.5 (19–33) years. Parental consanguinity was present for four patients. Four patients had a history of rhabdomyolysis, and the recorded CK level ranged between 67 and 90 000 IU/l. Three patients had a history of exertional myalgia, and one patient had a non‐fluctuating weakness. Through next‐generation sequencing analysis, we identified six cases with variants in the gene and a confirmed diagnosis of VLCADD. Of the total six variants identified, five were missense, and one was a novel frameshift mutation identified in two unrelated individuals. Two variants were novel, and three were previously reported. We treated the patients with a combination of L‐carnitine, Coenzyme Q10 and riboflavin. Three patients responded favorably to the treatment.

Conclusion

Adult‐onset VLCADD is a rare entity with various presentations. Patients may respond favorably to a cocktail of L‐carnitine, Coenzyme Q10, and riboflavin.

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Authors:
F. Fatehi, A. A. Okhovat, Y. Nilipour, M. Mroczek, V. Straub, A. Töpf, A. Palibrk, S. Peric, V. Rakocevic Stojanovic, H. Najmabadi and S. Nafissi
Article first published online:
24 Jul 2020 | DOI: 10.1111/ene.14402

Original Article

Background and purpose

The literature provides contrasting results on the efficacy of levetiracetam (LEV) in multiple sclerosis (MS) patients with cerebellar signs. It was sought to evaluate the efficacy of LEV on upper limb movement in MS patients.

Methods

In this multicenter double‐blind placebo‐controlled crossover study, MS patients with prevalently cerebellar signs were randomly allocated into two groups: LEV followed by placebo (group 1) or placebo followed by LEV (group 2). Clinical assessments were performed by a blinded physician at T0 (day 1), T1 (day 22), T2 (2‐week wash‐out period, day 35) and T3 (day 56). The primary outcome was dexterity in the arm with greater deficit, assessed by the nine‐hole peg test (9HPT). Secondary clinical outcomes included responders on the 9HPT (∆9HPT >20%), tremor activity of the daily living questionnaire and self‐defined upper limb impairment, through a numeric rating scale. Kinematic evaluation was performed using a digitizing tablet, providing data on normalized jerk, aiming error and centripetal acceleration.

Results

Forty‐eight subjects (45.2 ± 10.4 years) were randomly allocated into two groups ( = 24 each). 9HPT significantly improved in the LEV phase in both groups ( < 0.001). The LEV treatment phase led to a significant improvement ( < 0.01) of all clinical outcomes in group 1 and in dexterity in group 2. No significant changes were reported during both placebo phases in the two groups. Considering the kinematic analysis, only normalized jerk significantly improved after treatment with LEV (T0–T1) in group 1.

Conclusions

Levetiracetam treatment seems to be effective in improving upper limb dexterity in MS patients with cerebellar signs.

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Authors:
C. Solaro, A. de Sire, M. Messmer Uccelli, M. Mueller, R. Bergamaschi, C. Gasperini, D.A. Restivo, M.R. Stabile and F. Patti
Article first published online:
12 Jul 2020 | DOI: 10.1111/ene.14403

Original Article

Background and purpose

Childhood‐onset autosomal dominant cerebellar ataxia type 7 (SCA7) is a severe disease which leads to premature loss of ambulation and death. Early diagnosis of SCA7 is of major importance for genetic counselling and still relies on specific genetic testing, driven by clinical expertise. However, the precise phenotype and natural history of paediatric SCA7 has not yet been fully described. Our aims were to describe the natural history of SCA7 in a large multicentric series of children of all ages, and to find correlates to variables defining this natural history.

Methods

We collected and analysed clinical data from 28 children with proven SCA7. All had clinical manifestations of SCA7 and either a definite number of CAG repeats in or a long expansion > 100 CAG.

Results

We identified four clinical presentation patterns related to age at onset. Children of all age groups had cerebellar atrophy and retinal dystrophy. Our data, combined with those in the literature, suggest that definite ranges of CAG repeats determine paediatric SCA7 subtypes. The number of CAG repeats inversely correlated to all variables of the natural history. Age at gait ataxia onset correlated accurately to age at loss of walking ability and to age at death.

Conclusion

SCA7 in children has four presentation patterns that are roughly correlated to the number of CAG repeats. Our depiction of the natural history of SCA7 in children may help in monitoring the effect of future therapeutic trials.

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Authors:
M. G. Bah, D. Rodriguez, C. Cazeneuve, F. Mochel, D. Devos, A. Suppiej, A. Roubertie, I. Meunier, C. Gitiaux, A. Curie, F. Klapczynski, N. Allani‐Essid, M. Carneiro, R. Van Minkelen, A. Kievit, J. Fluss, B. Leheup, L. Ratbi, D. Héron, D. Gras, J. Do Cao, S. Pichard, I. Strubi‐Villaume, I. Audo, G. Lesca, P. Charles, F. Dubois, P. Comet‐Didierjean, Y. Capri, C. Barondiot, M. Barathon, C. Ewenczyk, A. Durr and C. Mignot
Article first published online:
23 Jul 2020 | DOI: 10.1111/ene.14405

Original Article

Background and purpose

Basilar artery occlusion (BAO) leads to high rates of morbidity and mortality, despite successful recanalization. The discordance between flow restoration and long‐term functional status clouds clinical decision‐making regarding further aggressive care. We sought to develop and validate a practical, prognostic tool for the prediction of 3‐month favorable outcome after acute reperfusion therapy for BAO.

Methods

This retrospective, multicenter, observational study was conducted at four high‐volume stroke centers in the USA and Europe. Multivariate regression analysis was performed to identify predictors of favorable outcome (90‐day modified Rankin scale scores 0–2) and derive a clinically applicable prognostic model (the Pittsburgh Outcomes after Stroke Thrombectomy‐Vertebrobasilar (POST‐VB) score). The POST‐VB score was evaluated and internally validated with regard to calibration and discriminatory ability. External validity was assessed in patient cohorts at three separate centers.

Results

In the derivation cohort of 59 patients, independent predictors of favorable outcome included smaller brainstem infarct volume on post‐procedure magnetic resonance imaging ( < 0.01) and younger age ( = 0.01). POST‐VB score was calculated as: age + (10 × brainstem infarct volume). POST‐VB score demonstrated excellent discriminatory ability [area under the receiver‐operating characteristic curve (AUC) = 0.91] and adequate calibration ( = 0.88) in the derivation cohort (Center A). It performed equally well across the three external validation cohorts (Center B, AUC = 0.89; Center C, AUC = 0.78; Center D, AUC = 0.80). Overall, a POST‐VB score < 49 was associated with an 88% likelihood of favorable outcome, as compared to 4% with a score ≥ 125.

Conclusions

The POST‐VB score effectively predicts 3‐month functional outcome following acute reperfusion therapy for BAO and may aid in guiding post‐procedural care.

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Authors:
A. P. Jadhav, S. M. Desai, D. M. Panczykowski, S. Rangaraju, D. Campbell, J. K. Ritvonen, M. Schreiner, H. Silvennoinen, J. Gerber, V. Puetz, S. A. Raza, D. C. Haussen, R. G. Nogueira, D. Strbian, T. G. Jovin and P. J. Lindsberg
Article first published online:
28 Jul 2020 | DOI: 10.1111/ene.14406

Original Article

Background and purpose

The detection rate of diffusion‐weighted (DWI) hyperintense lesions varies widely in patients with transient global amnesia (TGA). The aim was to examine the association of hyperintense lesions on DWI magnetic resonance imaging (MRI) with patient characteristics, precipitating factors, clinical presentation and MRI settings in patients with TGA.

Methods

In this multicenter retrospective observational study, using the standardized diagnosis entry system of electronic health records of four tertiary medical centers in the Kansai district of Japan, TGA patients ( = 261) who underwent brain MRI within 28 days of onset were examined. When the onset time was unavailable, the discovery time was used.

Results

Diffusion‐weighted hyperintense lesions were observed in 79 patients (30%). There were no significant differences in age, sex, vascular risk factors, precipitating factors or clinical presentation between patients with and without DWI lesions. The detection rate increased linearly 24 h after onset and then reached a plateau of 60%–80% by 84 h. After 84 h, the detection rate decreased rapidly. In a multivariate logistic regression model, MRI examination 24–84 h after onset (odds ratio 7.00, 95% confidence interval 3.50–13.99) and a thin‐slice (≤3 mm) DWI sequence (odds ratio 7.59, 95% confidence interval 3.05–18.88) were independent predictors of DWI lesions.

Conclusions

This study suggests that DWI hyperintense lesions in TGA are not associated with patient characteristics and clinical presentation. Brain MRI examination 24–84 h after onset and thin‐slice DWI sequences enhance the detection of DWI lesions in TGA patients.

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Authors:
K. Higashida, S. Okazaki, K. Todo, T. Sasaki, N. Ohara, N. Kohara, S. Yamamoto, H. Yamagami, K. Hashikawa, T. Yoshimoto, M. Ihara, M. Koga, K. Szabo and H. Mochizuki
Article first published online:
16 Jul 2020 | DOI: 10.1111/ene.14408

Original Article

Background and purpose

The objective was to assess the ability of eight commonly measured blood markers to serve as prognostic biomarkers in amyotrophic lateral sclerosis (ALS).

Methods

A cohort study was conducted of 399 individuals with newly diagnosed ALS between 2006 and 2011 in Stockholm, Sweden. Information on eight blood markers, including creatinine, albumin, haemoglobin, C‐reactive protein (CRP), glucose, potassium, sodium and calcium, measured at or after the date of ALS diagnosis, was collected. The Cox regression model and joint model were used to explore the associations between biomarkers and risk of mortality.

Results

The mean age at ALS diagnosis was 66.25 years and 58% of the patients were male. A lower than median level of serum creatinine [hazard ratio (HR) 1.67; 95% confidence interval (CI) 1.31–2.12] or albumin (HR 1.49, 95% CI 1.13–1.96) whereas a higher than median level of log‐transformed CRP (HR 1.33, 95% CI 1.04–1.71) or glucose (HR 1.34, 95% CI 1.01–1.78) at baseline was associated with a higher mortality risk. Taking all available measurements after ALS diagnosis into account, an association was found between per standard deviation (SD) decrease in serum creatinine (HR 2.23, 95% CI 1.81–2.75) or albumin (HR 1.83, 95% CI 1.43–2.36) as well as per SD increase of log(CRP) (HR 1.96, 95% CI 1.58–2.43) or glucose (HR 1.61, 95% CI 1.21–2.12) and a higher mortality risk. No clear association was found for haemoglobin, potassium, sodium or calcium.

Conclusions

This study suggests that serum creatinine, albumin, CRP and glucose measured at the time of ALS diagnosis as well as their temporal changes after ALS diagnosis could serve as additional prognostic biomarkers for ALS. Their values in routine clinical practice and clinical trials of ALS need to be investigated further.

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Authors:
J. Sun, J. J. Carrero, U. Zagai, M. Evans, C. Ingre, Y. Pawitan and F. Fang
Article first published online:
12 Jul 2020 | DOI: 10.1111/ene.14409

Original Article

Background and purpose

Migraine is a complex and disabling neurological disorder, the exact neurological mechanisms of which remain unclear. The thalamus is considered to be the hub of the central processing and integration of nociceptive information, as well as the modulation of these processes.

Methods

A total of 48 migraineurs without aura (MWoAs) during the interictal phase and 48 age‐ and sex‐matched healthy controls underwent resting‐state functional magnetic resonance imaging scans. We utilized masked independent component analysis and seed‐based functional connectivity (FC) to investigate whether MWoAs exhibited abnormal FC between subregions in the thalamus and the cortex regions.

Results

The MWoAs showed significantly weaker FC between the anterior dorsal thalamic nucleus and left precuneus. Additionally, MWoAs exhibited significantly reduced FC between the ventral posterior nucleus (VPN) and left precuneus, right inferior parietal lobule (R‐IPL) and right middle frontal gyrus. Furthermore, the FC Z‐scores between the VPN and R‐IPL were negatively correlated with pain intensity in MWoAs. The disease duration of patients was negatively correlated with the FC Z‐scores between the VPN and R‐IPL.

Conclusion

These altered thalamocortical connectivity patterns may contribute to multisensory integration abnormalities, deficits in pain attention, cognitive evaluation and pain modulation. Pain sensitivity and disease duration are closely tied to abnormal FC between the VPN and R‐IPL. Remarkably, recurrent headache attacks might contribute to this maladaptive functional plasticity closely related to pain intensity.

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Authors:
Z. X. Qin, J. J. Su, X. W. He, Q. Zhu, Y. Y. Cui, J. L. Zhang, M. X. Wang, T. T. Gao, W. Tang, Y. Hu, Y. S. Liu, Y. Qiao, J. R. Liu, J. Q. Li and X. X. Du
Article first published online:
16 Jul 2020 | DOI: 10.1111/ene.14411

Original Article

Background and purpose

Three different sets of criteria have been proposed for the diagnosis of neuromyelitis optica spectrum disorder (NMOSD). The objective was to compare the specificity, sensitivity and diagnostic accuracy of the three different sets of NMOSD criteria in patients presenting with inflammatory disorders of the central nervous system suggestive of NMOSD.

Methods

For 236 suspected NMOSD patients referred for serum aquaporin‐4 immunoglobulin G antibody (AQP4‐IgG) testing between 2012 and 2014, the three sets of NMOSD criteria [1999, 2006 NMO criteria and 2015 International Panel for NMO Diagnosis (IPND) criteria] were applied and compared to the final diagnosis.

Results

Seventy‐six patients fulfilled at least one set of criteria and 28 patients fulfilled all NMOSD sets of criteria. The final diagnosis was NMOSD in 66 cases, multiple sclerosis according to the MacDonald 2010 criteria in 85 cases and another diagnosis in 85 cases. The 2006 NMO criteria have the highest specificity (99%) and the 2015 IPND NMOSD criteria the highest sensitivity (97%). For the 1999, 2006 and 2015 IPND NMOSD criteria, the accuracy was respectively 82%, 87% and 97%.

Conclusions

Our study highlights the limitations of the first set of criteria that include the optico‐spinal form of multiple sclerosis. The accuracy of NMOSD diagnostic criteria improved from 1999 to 2015. It confirms the increased performance of the last set of criteria which covers a larger spectrum of clinical presentation. This study raises some concerns for classifying patients with seronegative transverse myelitis or optic neuritis, and myelin oligodendrocyte glycoprotein (MOG) antibody‐ associated disease.

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Authors:
C. Papeix, Y. Beigneux, E. Maillart, J. de Seze, C. Lubetzki, S. Vukusic, N. Collongues and R. Marignier
Article first published online:
28 Jul 2020 | DOI: 10.1111/ene.14414

Original Article

Background and purpose

In cervical dystonia, the accuracy of botulinum neurotoxin (BoNT) injections may influence the response to the treatment.

Methods

We used ultrasound to evaluate the accuracy of anatomy‐guided injections of BoNT in the neck muscles.

Results

A total of 56 consecutive patients and 332 injections were evaluated. The overall accuracy was 76.6%. The lowest accuracy (67.9%) was observed for the splenius capitis muscle.

Conclusions

Anatomic guidance of BoNT injections in the neck muscles is often inaccurate. Imaging guidance may improve the accuracy of BoNT injections in cervical dystonia.

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Authors:
A. Kreisler, C. Simonin, A. Degardin, E. Mutez and L. Defebvre
Article first published online:
19 Jul 2020 | DOI: 10.1111/ene.14415

Original Article

Background and purpose

Individuals with radiologically isolated syndrome (RIS) are at increased risk of converting to multiple sclerosis (MS). Early identification of later converters is crucial for optimal treatment decisions. The purpose of this study was to assess the predictive potential of optical coherence tomography (OCT) measures in individuals with RIS regarding conversion to MS.

Methods

This prospective observational cohort study included 36 individuals with RIS and 36 healthy controls recruited from two German MS centers. All individuals received baseline OCT and clinical examination and were longitudinally followed over up to 6 years. The primary outcome measure was the conversion to MS.

Results

During clinical follow‐up of 46 (26–58) months (median, 25%–75% interquartile range), eight individuals with RIS converted to MS. Individuals converting to MS showed a thinning of the peripapillary retinal nerve fiber layer (pRNFL) and the common ganglion cell and inner plexiform layer (GCIP) at baseline and during follow‐up. Individuals with a pRNFL of 99 µm or lower or a GCIP of 1.99 mm or lower were at a 7.5‐ and 8.0‐fold risk for MS conversion, respectively, compared to individuals with higher measures. After correction for other known risk factors, Cox proportional hazards regression revealed a hazard ratio of 1.08 for conversion to MS for each 1 µm decline in pRNFL.

Conclusions

Reduction of the pRNFL might be a novel and independent risk factor for conversion to MS in individuals with RIS. OCT might be useful for risk stratification and therapeutic decision‐making in individuals with RIS.

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Authors:
L. Aly, J. Havla, G. Lepennetier, T. F. M. Andlauer, C. Sie, E.‐M. Strauß, M.‐M. Hoshi, T. Kümpfel, M. Hiltensperger, M. Mitsdoerffer, M. Mühlau, C. Zimmer, B. Hemmer, T. Korn and B. Knier
Article first published online:
19 Jul 2020 | DOI: 10.1111/ene.14416

Original Article

Background and purpose

Most recurrent cervical artery dissection (CeAD) events occur shortly after the acute first CeAD. This study compared the characteristics of recurrent and first CeAD events and searched for associations between subsequent events of an individual person.

Methods

Cervical artery dissection patients with a new CeAD event occurring during a 3–6 month follow‐up were retrospectively selected in seven specialized stroke centers. Clinical and vascular characteristics of the initial and the recurrent CeADs were compared.

Results

The study sample included 76 patients. Recurrent CeADs were occlusive in one (1.3%) patient, caused cerebral ischaemia in 13 (17.1%) and were asymptomatic in 39 (51.3%) patients, compared to 29 (38.2%) occlusive, 42 (55.3%) ischaemic and no asymptomatic first CeAD events. In 52 (68.4%) patients, recurrent dissections affected both internal carotid arteries or both vertebral arteries, whilst 24 (31.6%) patients had subsequent dissections in both types of artery. Twelve (28.6%) of 42 patients with an ischaemic first dissection had ischaemic symptoms due to the recurrent CeADs, too. However, only one (1.3%) of 34 patients with a non‐ischaemic first CeAD suffered ischaemia upon recurrence.

Conclusion

Recurrent CeAD typically affects the same site of artery. It causes ischaemic events less often than the first CeAD. The risk that patients who presented with solely non‐ischaemic symptoms of a first CeAD will have ischaemic symptoms in the case of a recurrent CeAD seems very small.

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Authors:
M. Kloss, L. Kalashnikova, L. Dobrynina, C. Traenka, S. T. Engelter, T. M. Metso, T. Tatlisumak, C. Urbanek, A. Grau, L. Kellert, T. Brandt, C. M. Wieker, C. Grond‐Ginsbach and A. Pezzini
Article first published online:
22 Jul 2020 | DOI: 10.1111/ene.14417

Original Article

Background and purpose

Clinical use of continuous electrocardiography (cECG) for detecting atrial fibrillation (AF) after stroke is unclear. In a Danish nationwide cohort, we described post‐stroke time trends in outpatient cECG usage and AF incidence and characterized factors associated with cECG use.

Methods

Patients without AF discharged after their first ischaemic stroke between 2010 and 2016 were identified from Danish nationwide registries. cECG included Holter or event recording within 120 days from discharge. Cumulative incidence analysis and multivariable adjusted logistic regression were used to assess time trends and factors associated with cECG usage and AF.

Results

The study population comprised 39 641 patients. Cumulative use of cECG increased threefold from 3.3% [95% confidence intervals (CI), 2.8–3.8] in 2010 to 10.5% (95% CI, 9.7–11.3) in 2016. Correspondingly, cumulative incidence of post‐stroke AF increased from 1.9% (95% CI, 1.5–2.3) to 2.8% (95% CI, 2.4–3.2). Of all cECG‐evaluated patients, 6.3% received an AF diagnosis versus 2.2% of the unevaluated. Receiving cECG was associated with increased odds of AF (odds ratio, 3.4; 95% CI, 2.8–4.0). Lower age, milder strokes and less comorbidity were associated with increased odds of receiving cECG. In contrast, risk factors for AF were increasing age and more comorbidity.

Conclusions

Post‐stroke outpatient cECG use and AF incidence have increased over time, but screening rates were low. cECG use was associated with tripled odds of detecting AF. There was a disparity between factors associated with cECG use and risk factors of AF. This raise questions as to the appropriateness of the current clinical approach to post‐stoke AF detection.

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Authors:
L. F. Lyckhage, M. L. Hansen, J. H. Butt, G. Hilmar Gislason, A. Gundlund and T. Wienecke
Article first published online:
26 Jul 2020 | DOI: 10.1111/ene.14418

Original Article

Background and purpose

Soluble ST2 (sST2) is a promising biomarker in inflammation, atherosclerosis and cardiovascular diseases. We investigated the association between serum sST2 and poor outcome in patients with transient ischaemic attack (TIA)/ischaemic stroke.

Methods

Patients within 24 h after onset and with measured serum sST2 were prospectively enrolled in this study. Poor outcome was a combination of a new stroke event (ischaemic or haemorrhagic) and all‐cause death within 90 days and 1 year. The associations of serum sST2 with poor outcome were analysed by Cox proportional hazards.

Results

Among the 430 patients included, the median (interquartile range) sST2 was 17.72 (9.31–28.84) ng/mL. A total of 19 (4.4%) and 38 (8.8%) patients experienced poor outcome within 90 days and 1 year, respectively. Compared with the lowest sST2 tertile, hazard ratios (HRs) [95% confidence intervals (CI)] for the highest tertile were 5.14 (1.43–18.51) for poor outcome within 90 days and 3.00 (1.29–6.97) at 1 year after multivariate adjustments. Adding sST2 to a prediction model significantly improved risk stratification of poor outcome in TIA/ischaemic stroke, as observed by the continuous net reclassification improvement of 60.98% (95% CI, 15.37–106.6%,  = 0.009) and integrated discrimination improvement of 2.63% (95% CI, 0.08–5.18%,  = 0.043) at 90 days and the continuous net reclassification improvement of 41.68% (95% CI, 8.74–74.61%,  = 0.013) at 1 year.

Conclusions

Increased serum sST2 levels in TIA/ischaemic stroke were associated with increased risks of poor outcome within 90 days and 1 year, suggesting that serum sST2 may be a potential long‐term prognostic biomarker for TIA/ischaemic stroke.

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Authors:
X. Tian, Y. Guo, X. Wang, L. Pei, X. Wang, J. Wu, S. Sun, Y. Li, M. Ning, F. S. Buonanno, Y. Xu and B. Song
Article first published online:
17 Jul 2020 | DOI: 10.1111/ene.14419

Original Article

Background and purpose

Both optical coherence tomography (OCT) and magnetic resonance imaging (MRI) volumetric measures have been postulated as potential biomarkers of multiple sclerosis (MS)‐related disability. The aim of the study was to investigate the association between OCT and brain volume and spinal cord area (SCA) parameters in patients with relapsing MS and to assess their independent associations with disability.

Methods

This was a cross‐sectional analysis of 90 patients with MS who underwent OCT and MRI examination. Values of peripapillary retinal nerve fibre layer (pRNFL), ganglion cell/inner plexiform layer (GCIPL) and inner nuclear layer of eyes without previous optic neuritis were obtained. SCA and brain parenchymal fraction (BPF), grey and white matter fractions were obtained. Multivariable regression analyses were conducted with disability as dependent variable.

Results

Lower pRNFL thickness and lower GCIPL volume as well as lower BPF, grey matter fraction and SCA were associated with a longer disease duration and a higher Expanded Disability Status Scale score. Lower pRNFL thickness and GCIPL volumes were associated with lower BPF and SCA. In the multivariable logistic regression analyses, pRNFL thickness and GCIPL volume outperformed MRI in predicting disability.

Conclusions

The OCT measures correlate with brain and spinal cord atrophy and appear more closely associated with disability than MRI volumetric measures.

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Authors:
A. Vidal‐Jordana, D. Pareto, S. Cabello, M. Alberich, J. Rio, M. Tintore, C. Auger, X. Montalban, A. Rovira and J. Sastre‐Garriga
Article first published online:
28 Jul 2020 | DOI: 10.1111/ene.14421

Original Article

Background and purpose

The frequency of infectious encephalitis and the distribution of causative pathogens in tropical areas are poorly known and may be influenced by emerging and rare infections. The aim was to characterize a large series of acute infectious encephalitis and myelitis in immunocompetent patients from the Caribbean island of Guadeloupe identifying clinical, biological and radiological features according to pathogens.

Methods

Using a hospital database, detailed information on a comprehensive series of immunocompetent patients with acute infectious myelitis and encephalitis over the 2012–2018 period was retrospectively collected.

Results

From 259 suspected cases with acute central nervous system infection, 171 cases were included for analysis, comprising 141 encephalitis, 22 myelitis and eight encephalomyelitis. The annual incidence peaked at 15.0/100 000 during the Zika 2016 outbreak. Children accounted for 22.2% of cases. Eight adults died during hospital stay, all encephalitis. Seventeen infectious agents, two of which had never been described in Guadeloupe so far, were identified in 101 cases (59.1%), including 35 confirmed cases (34.7%), 48 probable cases (47.5%), 15 possible cases (14.9%) and three clinical cases (3.0%). The most frequent etiologic agents were Zika virus in 23 cases (13.5%), herpes simplex in 12 (7.0%), varicella zoster virus in 11 (6.4%), dengue virus in 11 (6.4%) and leptospirosis in 11 (6.4%).

Conclusions

The Zika outbreak had a major influence on the annual incidence of acute central nervous system infection. Acute neuroleptospirosis is over‐represented in our series. Further efforts are mandatory to develop new diagnostic tools for pathogen profiling.

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Authors:
H. Chaumont, E. Roze, B. Tressières, F. Lazarini and A. Lannuzel
Article first published online:
27 Jul 2020 | DOI: 10.1111/ene.14422

Original Article

Background and purpose

Different amounts of cumulative exposure to the toxic mutant form of the huntingtin protein might underlie the distinctive pattern of striatal connectivity in pre‐manifest Huntington’s disease (pre‐HD). The aim of this study was to investigate disease‐burden‐dependent cortical‐striatal and subcortical‐striatal loops at different pre‐HD stages.

Methods

A total of 16 participants with pre‐HD and 25 controls underwent magnetic resonance imaging to investigate striatal structural and functional connectivity (FC). Individuals with pre‐HD were stratified into far‐from‐onset and close‐to‐onset disease groups according to the disease‐burden score. Cortical‐striatal and subcortical‐striatal FC was investigated through seed‐region of interest (ROI) and ROI‐to‐ROI approaches, respectively. The integrity of white‐matter pathways originating from striatal seeds was investigated through probabilistic tractography.

Results

In far‐from‐onset pre‐HD, the left caudate nucleus showed cortical increased FC in brain regions overlapping with the default mode network and increased coupling connectivity with the bilateral thalamus. By contrast, close‐to‐onset individuals showed increased fractional anisotropy (and mean diffusivity) in the right caudate nucleus and widespread striatal atrophy. Finally, we reported an association between cortical‐caudate FC and caudate structural connectivity, although this did not survive multiple comparison correction.

Conclusions

Functional reorganization of the caudate nucleus might underlie plasticity compensatory mechanisms that recede as individuals with pre‐HD approach clinical symptom onset and neurodegeneration.

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Authors:
L. Pini, K. Youssov, F. Sambataro, A.‐C. Bachoud‐Levi, A. Vallesi and C. Jacquemot
Article first published online:
30 Jul 2020 | DOI: 10.1111/ene.14423

Letters To The Editor

Response to: mutations in adult‐onset distal spinal muscular atrophy

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Authors:
G. Tasca, B. Udd and M. Sabatelli
Article first published online:
28 Jul 2020 | DOI: 10.1111/ene.14425

Letters To The Editor

mutations in adult‐onset distal spinal muscular atrophy

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Authors:
Carlos Pablo de Fuenmayor‐Fernández de la Hoz, Aurelio Hernández‐Laín, Montse Olivé, Ana Arteche López, Jesús Esteban and Cristina Domínguez‐González
Article first published online:
28 Jul 2020 | DOI: 10.1111/ene.14426

Case Study

Nivolumab for treatment of progressive multifocal leukoencephalopathy in Sézary syndrome

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Authors:
N. Grassl, L. Bunse, T. Beutel, M. Klockziem, A. Gass, M. Platten and P. Eisele
Article first published online:
13 Oct 2020 | DOI: 10.1111/ene.14433

Editorial

Checkpoint therapy for progressive multifocal leukoencephalopathy: pointless?

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Authors:
D. B. Clifford
Article first published online:
08 Aug 2020 | DOI: 10.1111/ene.14434

Case Study

Clearance of JC polyomavirus from cerebrospinal fluid following treatment with interleukin‐2 and pembrolizumab in an individual with progressive multifocal leukoencephalopathy and no underlying immune deficiency syndrome

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Authors:
Y. Goereci, F. Schweitzer, A. Wellstein, S. Silling, S. Borchmann, B. von Tresckow, O. Adams, R. Martin, M. Schlamann, M. Schroeter, G. R. Fink, M. P. Wattjes and C. Warnke
Article first published online:
13 Oct 2020 | DOI: 10.1111/ene.14435

Short Communication

Background and purpose

Primary melanotic tumors of the nervous system (PMTNS) are thought to be an exceedingly rare group of tumors not captured by tumor registries. We aimed to determine relative incidence, clinical presentation, diagnostic findings, patient management, and outcome.

Methods

We retrospectively searched the database of the Section of Neuro‐Oncology at the Yale Cancer Center for patients with primary or metastatic melanotic lesions of the nervous system. For patients with PMTNS, we recorded demographic data, clinical presentation, histopathological and imaging findings, therapy, and outcome.

Results

A total of 116 patients with melanotic lesions were identified, including four patients with PMTNS. The relative incidence of PMTNS was therefore calculated as 3.4%. Histology of PMTNS patients revealed melanocytoma in three patients and psammomatous melanotic schwannoma in one patient. Symptoms were non‐specific and attributed to tumor mass effect. Magnetic resonance imaging showed hyperintensity on pre‐contrast T1‐weighted imaging, hypointensity on T2‐weighted imaging, and homogenous contrast enhancement in all PMTNS patients. Definitive diagnosis was based on tissue analysis, with detection of melanin‐containing cells on conventional histology and S100‐positivity on immunohistochemistry. Molecular analysis for GNAQ mutation assisted in establishing diagnosis when only small amounts of tissue were available. Aggressive surgical treatment showed favorable outcomes in all cases; radiation therapy was used for residual or relapsed disease. The median follow‐up was 7.5 ± 5 years, and all patients were alive on the day of database closure.

Conclusion

Primary melanotic tumors of the nervous system are rare nervous system tumors. Outcome appears excellent, and complete surgical resection may form the basis for favorable outcome. Radiation therapy may represent a therapeutic approach for residual or relapsed disease.

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Authors:
H. K. Grosshans, A. J. Huttner, J. M. Piepmeier, L. D. Kaulen, R. K. Fulbright, J. M. Baehring and P. Karschnia
Article first published online:
10 Aug 2020 | DOI: 10.1111/ene.14437

Short Communications

Background and purpose

Post‐viral olfactory dysfunction is well established and has been shown to be a key symptom of COVID‐19 with more than 66% of European and US patients reporting some degree of loss of smell. Persistent olfactory dysfunction appears to be commonplace and will drive the demand for general practitioner, otolaryngology or neurology consultation in the next few months – evidence regarding recovery will be essential in counselling our patients.

Methods

This was a prospective survey‐based data collection and telemedicine follow‐up.

Results

In total, 751 patients completed the study, of whom 477 were females and 274 males. The mean age of the patients was 41 ± 13 years (range 18–60). There were 621 patients (83%) who subjectively reported a total loss of smell and 130 (17%) a partial loss. After a mean follow‐up of 47 ± 7 days (range 30–71) from the first consultation, 277 (37%) patients still reported a persistent subjective loss of smell, 107 (14%) reported partial recovery and 367 (49%) reported complete recovery. The mean duration of the olfactory dysfunction was 10 ± 6 days (range 3–31) in those patients who completely recovered and 12 ± 8 days (range 7–35) in those patients who partially recovered.

Conclusions

According to our results, at this relatively early point in the pandemic, subjective patterns of recovery of olfactory dysfunction in COVID‐19 patients are valuable for our patients, for hypothesis generation and for treatment development.

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Authors:
C. M. Chiesa‐Estomba, J. R. Lechien, T. Radulesco, J. Michel, L. J Sowerby, C. Hopkins and S. Saussez
Article first published online:
05 Aug 2020 | DOI: 10.1111/ene.14440

Review

Abstract

Severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) causes a highly contagious respiratory disease referred to as COVID‐19. However, emerging evidence indicates that a small but growing number of COVID‐19 patients also manifest neurological symptoms, suggesting that SARS‐CoV‐2 may infect the nervous system under some circumstances. SARS‐CoV‐2 primarily enters the body through the epithelial lining of the respiratory and gastrointestinal tracts, but under certain conditions this pleiotropic virus may also infect peripheral nerves and gain entry into the central nervous system (CNS). The brain is shielded by various anatomical and physiological barriers, most notably the blood–brain barrier (BBB) which functions to prevent harmful substances, including pathogens and pro‐inflammatory mediators, from entering the brain. The BBB is composed of highly specialized endothelial cells, pericytes, mast cells and astrocytes that form the neurovascular unit, which regulates BBB permeability and maintains the integrity of the CNS. In this review, potential routes of viral entry and the possible mechanisms utilized by SARS‐CoV‐2 to penetrate the CNS, either by disrupting the BBB or infecting the peripheral nerves and using the neuronal network to initiate neuroinflammation, are briefly discussed. Furthermore, the long‐term effects of SARS‐CoV‐2 infection on the brain and in the progression of neurodegenerative diseases known to be associated with other human coronaviruses are considered. Although the mechanisms of SARS‐CoV‐2 entry into the CNS and neurovirulence are currently unknown, the potential pathways described here might pave the way for future research in this area and enable the development of better therapeutic strategies.

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Authors:
S. B. Alam, S. Willows, M. Kulka and J. K. Sandhu
Article first published online:
14 Aug 2020 | DOI: 10.1111/ene.14442

Short Communication

Background and purpose

The objective of this study was to assess the neurological manifestations in a series of consecutive severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2)‐positive patients, comparing their frequency with a population hospitalized in the same period for flu/respiratory symptoms, finally not related to SARS‐CoV‐2.

Methods

Patients with flu/respiratory symptoms admitted to Fondazione Policlinico Gemelli hospital from 14 March 2020 to 20 April 2020 were retrospectively enrolled. The frequency of neurological manifestations of patients with SARS‐CoV‐2 infection was compared with a control group.

Results

In all, 213 patients were found to be positive for SARS‐CoV‐2, after reverse transcriptase polymerase chain reaction on nasal or throat swabs, whilst 218 patients were found to be negative and were used as a control group. Regarding central nervous system manifestations, in SARS‐CoV‐2‐positive patients a higher frequency of headache, hyposmia and encephalopathy always related to systemic conditions (fever or hypoxia) was observed. Furthermore, muscular involvement was more frequent in SARS‐CoV‐2 infection.

Conclusions

Patients with COVID‐19 commonly have neurological manifestations but only hyposmia and muscle involvement seem more frequent compared with other flu diseases.

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Authors:
M. Luigetti, R. Iorio, A. R. Bentivoglio, L. Tricoli, V. Riso, J. Marotta, C. Piano, G. Primiano, L. Zileri Del Verme, M. R. Lo Monaco, P. Calabresi, Valeria Abbate, Nicola Acampora, Giovanni Addolorato, Fabiana Agostini, Maria Elena Ainora, Karim Akacha, Elena Amato, Francesca Andreani, Gloria Andriollo, Maria Giuseppina Annetta, Brigida Eleonora Annicchiarico, Mariangela Antonelli, Gabriele Antonucci, Gian Marco Anzellotti, Alessandro Armuzzi, Fabiana Baldi, Ilaria Barattucci, Christian Barillaro, Fabiana Barone, Rocco Domenico Alfonso Bellantone, Andrea Bellieni, Giuseppe Bello, Andrea Benicchi, Francesca Benvenuto, Ludovica Berardini, Filippo Berloco, Roberto Bernabei, Antonio Bianchi, Daniele Guerino Biasucci, Luigi Marzio Biasucci, Stefano Bibbò, Alessandra Bini, Alessandra Bisanti, Federico Biscetti, Maria Grazia Bocci, Nicola Bonadia, Filippo Bongiovanni, Alberto Borghetti, Giulia Bosco, Silvia Bosello, Vincenzo Bove, Giulia Bramato, Vincenzo Brandi, Teresa Bruni, Carmine Bruno, Dario Bruno, Maria Chiara Bungaro, Alessandro Buonomo, Livia Burzo, Angelo Calabrese, Maria Rosaria Calvello, Andrea Cambieri, Chiara Cambise, Giulia Cammà, Marcello Candelli, Gennaro Canistro, Antonello Cantanale, Gennaro Capalbo, Lorenzo Capaldi, Emanuele Capone, Esmeralda Capristo, Luigi Carbone, Silvia Cardone, Simone Carelli, Angelo Carfì, Annamaria Carnicelli, Cristiano Caruso, Francesco Antonio Casciaro, Lucio Catalano, Roberto Cauda, Andrea Leonardo Cecchini, Lucia Cerrito, Melania Cesarano, Annalisa Chiarito, Rossella Cianci, Sara Cicchinelli, Arturo Ciccullo, Marta Cicetti, Francesca Ciciarello, Antonella Cingolani, Maria Camilla Cipriani, Maria Ludovica Consalvo, Gaetano Coppola, Giuseppe Maria Corbo, Andrea Corsello, Federico Costante, Matteo Costanzi, Marcello Covino, Davide Crupi, Salvatore Lucio Cutuli, Stefano D'Addio, Alessia D'Alessandro, Maria Elena D'Alfonso, Emanuela D'Angelo, Francesca D'Aversa, Fernando Damiano, Gian Maria De Berardinis, Tommaso De Cunzo, Donati Katleen De Gaetano, Giulio De Luca, Giuseppe De Matteis, Gennaro De Pascale, Paolo De Santis, Martina De Siena, Francesco De Vito, Valeria Del Gatto, Paola Del Giacomo, Fabio Del Zompo, Antonio Maria Dell'Anna, Polla Davide Della, Luca Di Gialleonardo, Simona Di Giambenedetto, Roberta Di Luca, Luca Di Maurizio, Mariangela Di Muro, Alex Dusina, Davide Eleuteri, Alessandra Esperide, Daniele Fachechi, Domenico Faliero, Cinzia Falsiroli, Massimo Fantoni, Annalaura Fedele, Daniela Feliciani, Cristina Ferrante, Giuliano Ferrone, Rossano Festa, Maria Chiara Fiore, Andrea Flex, Evelina Forte, Francesco Franceschi, Alessandra Francesconi, Laura Franza, Barbara Funaro, Mariella Fuorlo, Domenico Fusco, Maurizio Gabrielli, Eleonora Gaetani, Claudia Galletta, Antonella Gallo, Giovanni Gambassi, Matteo Garcovich, Antonio Gasbarrini, Irene Gasparrini, Silvia Gelli, Antonella Giampietro, Laura Gigante, Gabriele Giuliano, Giorgia Giuliano, Bianca Giupponi, Elisa Gremese, Domenico Luca Grieco, Manuel Guerrera, Valeria Guglielmi, Caterina Guidone, Antonio Gullì, Amerigo Iaconelli, Aurora Iafrati, Gianluca Ianiro, Angela Iaquinta, Michele Impagnatiello, Riccardo Inchingolo, Enrica Intini, Raffaele Iorio, Immacolata Maria Izzi, Tamara Jovanovic, Cristina Kadhim, Rosa La Macchia, Daniele Ignazio La Milia, Francesco Landi, Giovanni Landi, Rosario Landi, Raffaele Landolfi, Massimo Leo, Paolo Maria Leone, Laura Levantesi, Antonio Liguori, Rosa Liperoti, Marco Maria Lizzio, Rita Lo Monaco Maria, Pietro Locantore, Francesco Lombardi, Gianmarco Lombardi, Loris Lopetuso, Valentina Loria, Angela Raffaella Losito, Mothanje Barbara Patricia Lucia, Francesco Macagno, Noemi Macerola, Giampaolo Maggi, Giuseppe Maiuro, Francesco Mancarella, Francesca Mangiola, Alberto Manno, Debora Marchesini, Gian Marco Maresca, Giuseppe Marrone, Ilaria Martis, Anna Maria Martone, Emanuele Marzetti, Chiara Mattana, Maria Valeria Matteo, Riccardo Maviglia, Ada Mazzarella, Carmen Memoli, Luca Miele, Alessio Migneco, Irene Mignini, Alessandro Milani, Domenico Milardi, Massimo Montalto, Giuliano Montemurro, Flavia Monti, Luca Montini, Tony Christian Morena, Vincenzina Morra, Chiara Morretta, Davide Moschese, Celeste Ambra Murace, Martina Murdolo, Rita Murri, Marco Napoli, Elisabetta Nardella, Gerlando Natalello, Daniele Natalini, Simone Maria Navarra, Antonio Nesci, Alberto Nicoletti, Rocco Nicoletti, Tommaso Filippo Nicoletti, Rebecca Nicolò, Nicola Nicolotti, Enrico Celestino Nista, Eugenia Nuzzo, Marco Oggiano, Veronica Ojetti, Francesco Cosimo Pagano, Gianfranco Paiano, Cristina Pais, Federico Pallavicini, Andrea Palombo, Federico Paolillo, Alfredo Papa, Domenico Papanice, Luigi Giovanni Papparella, Mattia Paratore, Giuseppe Parrinello, Giuliana Pasciuto, Pierpaolo Pasculli, Giovanni Pecorini, Simone Perniola, Erika Pero, Luca Petricca, Martina Petrucci, Chiara Picarelli, Andrea Piccioni, Annalisa Piccolo, Edoardo Piervincenzi, Giulia Pignataro, Raffaele Pignataro, Gabriele Pintaudi, Luca Pisapia, Marco Pizzoferrato, Fabrizio Pizzolante, Roberto Pola, Caterina Policola, Maurizio Pompili, Flavia Pontecorvi, Valerio Pontecorvi, Francesca Ponziani, Valentina Popolla, Enrica Porceddu, Angelo Porfidia, Lucia Maria Porro, Annalisa Potenza, Francesca Pozzana, Giuseppe Privitera, Daniela Pugliese, Gabriele Pulcini, Simona Racco, Francesca Raffaelli, Vittoria Ramunno, Gian Ludovico Rapaccini, Luca Richeldi, Emanuele Rinninella, Sara Rocchi, Bruno Romanò, Stefano Romano, Federico Rosa, Laura Rossi, Raimondo Rossi, Enrica Rossini, Elisabetta Rota, Fabiana Rovedi, Carlotta Rubino, Gabriele Rumi, Andrea Russo, Andrea Russo, Luca Sabia, Andrea Salerno, Sara Salini, Lucia Salvatore, Dehara Samori, Claudio Sandroni, Maurizio Sanguinetti, Luca Santarelli, Paolo Santini, Danilo Santolamazza, Angelo Santoliquido, Francesco Santopaolo, Michele Cosimo Santoro, Francesco Sardeo, Caterina Sarnari, Angela Saviano, Luisa Saviano, Franco Scaldaferri, Roberta Scarascia, Tommaso Schepis, Francesca Schiavello, Giancarlo Scoppettuolo, Davide Sedda, Flaminio Sessa, Luisa Sestito, Carlo Settanni, Matteo Siciliano, Valentina Siciliano, Rossella Sicuranza, Benedetta Simeoni, Jacopo Simonetti, Andrea Smargiassi, Paolo Maurizio Soave, Chiara Sonnino, Domenico Staiti, Claudia Stella, Leonardo Stella, Eleonora Stival, Eleonora Taddei, Rossella Talerico, Elio Tamburello, Enrica Tamburrini, Eloisa Sofia Tanzarella, Elena Tarascio, Claudia Tarli, Alessandra Tersali, Pietro Tilli, Jacopo Timpano, Enrico Torelli, Flavia Torrini, Matteo Tosato, Alberto Tosoni, Luca Tricoli, Marcello Tritto, Mario Tumbarello, Anita Maria Tummolo, Maria Sole Vallecoccia, Federico Valletta, Francesco Varone, Francesco Vassalli, Giulio Ventura, Lucrezia Verardi, Lorenzo Vetrone, Giuseppe Vetrugno, Elena Visconti, Felicia Visconti, Andrea Viviani, Raffaella Zaccaria, Carmelina Zaccone, Lorenzo Zelano, Lorenzo Zileri Dal Verme and Giuseppe Zuccalà
Article first published online:
24 Aug 2020 | DOI: 10.1111/ene.14444

Editorial

Brain–liver axis: a new pathway for cognitive disorders related to hepatic fibrosis

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Authors:
R. Bordet and D. Deplanque
Article first published online:
24 Aug 2020 | DOI: 10.1111/ene.14454

Editorial

Stroke mimicking an acute coronary syndrome: a stroke chameleon that is worth knowing

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Authors:
S. Moulin
Article first published online:
28 Aug 2020 | DOI: 10.1111/ene.14456

Short Communication

Background and purpose

‘Stroke chameleons’ refer to a group of syndromes that initially are not diagnosed as cerebrovascular events but are then found to represent stroke. The objective of this study was to report on acute ischaemic stroke (AIS) patients with chest or epigastric pain of central origin, clinically resembling an acute coronary syndrome (ACS).

Methods

A prospective list was kept of AIS patients admitted to our institution between 2002 and 2014 with stroke symptoms appearing as an ACS on first clinical evaluation. For each identified patient, clinical and radiological features, delay to correct diagnosis, stroke etiology and 3‐month functional outcome were reviewed. Data were mainly extracted from the Acute Stroke Registry and Analysis of Lausanne (ASTRAL).

Results

Five AIS patients presenting mainly with chest or epigastric pain leading to a wrong diagnosis of ACS were identified. Cardiac evaluation showed minor electrocardiogram changes in two patients and isolated troponin elevation in one, subsequently shown to be of non‐coronary origin. The correct diagnosis of AIS was made only between 1 h and 72 h after hospital arrival. Four patients presented a vertebrobasilar stroke. None of the patients received acute stroke revascularization therapy despite two of them being in the time window for such treatment.

Conclusion

Acute ischaemic stroke presentation can infrequently resemble an ACS. In cases of negative cardiac work‐up, a central origin of chest pain should be considered, especially in the presence of subtle other neurological symptoms or signs. Appropriate diagnosis of stroke could avoid treatment delays and improve outcomes.

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Authors:
L. Rebordão, S. Nannoni, D. Strambo and P. Michel
Article first published online:
17 Aug 2020 | DOI: 10.1111/ene.14457

Case Study

Reversal of the ‘reversed Robin Hood syndrome’ in severe intracranial stenosis after enhanced external counterpulsation therapy

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Authors:
P. Paliwal, A. K. Sinha and V. K. Sharma
Article first published online:
13 Oct 2020 | DOI: 10.1111/ene.14459

Review Article

Abstract

Guillain‐Barré syndrome (GBS) incidence can increase during outbreaks of infectious illnesses. A few cases of GBS associated with coronavirus disease 2019 (COVID‐19) infection have been reported. The aim was to identify specific clinical features of GBS associated with COVID‐19. PubMed, Embase and Cochrane were searched from 1 November 2019 to 17 May 2020 and included all papers with full text in English, Spanish, French or Italian, reporting original data of patients with GBS and COVID‐19. Data were extracted according to a predefined protocol. A total of 18 patients reported in 14 papers were included in this review. All the patients were symptomatic for COVID‐19, with cough and fever as the most frequently reported symptoms. The interval between the onset of symptoms of COVID‐19 and the first symptoms of GBS ranged from −8 to 24 days (mean 9 days; median 10 days). Most of the patients had a typical GBS clinical form predominantly with a demyelinating electrophysiological subtype. Mechanical ventilation was necessary in eight (44%) patients. Two (11%) patients died. Published cases of GBS associated with COVID‐19 report a sensorimotor, predominantly demyelinating GBS with a typical clinical presentation. Clinical features and disease course seem similar to those observed in GBS related to other etiologies. These results should be interpreted with caution since only 18 cases have been heterogeneously reported so far.

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Authors:
P. De Sanctis, P. E. Doneddu, L. Viganò, C. Selmi and E. Nobile‐Orazio
Article first published online:
11 Sep 2020 | DOI: 10.1111/ene.14462

Short Communications

Background and purpose

The etiology of ‘exploding head syndrome’ (EHS) is currently highly controversial and its management is unknown. The object was to explore these.

Methods

This observational study describes my personal experience of EHS and discusses its implications.

Results

I experienced, while suffering from EHS, recurrent episodes of transient cardiac arrests due to sick sinus syndrome. Implantation of a cardiac pacemaker resulted in immediate, dramatic, permanent cessation of both cardiac arrest episodes and EHS. This has not been reported previously.

Conclusions

This striking temporal relationship indicates a possible association between EHS and sick sinus syndrome.

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Authors:
S.S. Hayreh
Article first published online:
26 Aug 2020 | DOI: 10.1111/ene.14464

Short Communications

Background and purpose

The symptomatic effect of zolpidem on apathy has been reported in neurological disorders such as strokes and post‐anoxic brain injuries, but not in white‐matter disease of the brain.

Methods

A 38‐year‐old patient presenting with severe apathy related to a genetic leukoencephalopathy but showing marked improvement of apathy after taking 10 mg of zolpidem was studied. To understand what may mediate such a clinical effect, a multimodal neurometabolic approach using F fluorodeoxyglucose positron emission tomography (FDG‐PET) and a dedicated magnetic resonance spectroscopy (MRS) sequence for gamma aminobutyric acid (GABA) and glutamine + glutamate metabolism was undertaken.

Results

Pre‐zolpidem FDG‐PET showed hypometabolism in the orbitofrontal cortex, dorsolateral cortex and basal ganglia compared to healthy controls. Post‐zolpidem, FDG‐PET displayed increased metabolism in the orbitofrontal cortex together with improvement in the emotional and auto‐activation domains of apathy. There was no improvement in the cognitive domain of apathy, and no change in metabolism in the dorsolateral frontal cortex. Post‐zolpidem, MRS showed increased GABA and glutamine + glutamate levels in the frontal cortex and pallidum.

Conclusion

Our multimodal neurometabolic study suggests that the effects of zolpidem on apathy are related to increased metabolism in the orbitofrontal cortex and basal ganglia secondary to GABA modulation. Zolpidem may improve apathy in other white‐matter disorders.

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Authors:
C. Delorme, I. Adanyeguh, D. Bendetowicz, I. Le Ber, A. Ponchel, A. Kas, M.‐O. Habert and F. Mochel
Article first published online:
03 Sep 2020 | DOI: 10.1111/ene.14465

Short Communication

Background and purpose

Ischaemic stroke has been described in association with COVID‐19. Several pathophysiological mechanisms have been suggested, i.e. prothrombotic state, cardiac injury etc. It was sought to assess the potential association between ischaemic stroke associated with SARS‐CoV‐2 infection and underlying atherosclerotic lesions.

Methods

A retrospective analysis of stroke related to large vessel occlusion was conducted amongst patients with SARS‐CoV‐2 infection and underlying mild atherosclerotic disease, between 19 March and 19 April 2020 in six different stroke centers in the Île‐de France area, France.

Results

The median age was 52 years, median body mass index was 29.5 kg/m. All patients displayed previous vascular risk factors such as high blood pressure, diabetes, dyslipidemia or body mass index > 25. The delay between the first respiratory symptoms of COVID‐19 and stroke was 11.5 days. At baseline, all had tandem occlusions, i.e. intracerebral and extracerebral thrombus assessed with computed tomography or magnetic resonance imaging. Cases displayed a large thrombus in the cervical carotid artery with underlying mild non‐stenosing atheroma, after an etiological workup based on angio‐computed tomography or magnetic resonance imaging and/or cervical echography.

Conclusion

Our study should alert clinicians to scrutinize any new onset of ischaemic stroke during COVID‐19 infection, mainly in patients with vascular risk factors or underlying atherosclerotic lesions.

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Authors:
B. Lapergue, A. Lyoubi, E. Meseguer, I. Avram, C. Denier, L. Venditti, A. Consoli, A. Guedon, E. Houdart, D. Weisenburger‐Lile, M. Piotin, B. Maier, M. Obadia and T.D.E. Broucker
Article first published online:
14 Sep 2020 | DOI: 10.1111/ene.14466

Reviews

Background and purpose

The present systematic review and meta‐analysis aims to establish the possible value of cerebrospinal fluid (CSF) and serum/plasma levels of amino acids as markers of Parkinson’s disease (PD).

Methods

This is a review of four databases (PubMed, Embase, MEDLINE and Web of Science – Core Collection) from 1966 to 14 March 2020, with identification of references of interest for the topic. The meta‐analysis of eligible studies was done using R software package meta, following the PRISMA and MOOSE guidelines.

Results

Compared with age‐ and sex‐matched controls, PD patients showed decreased CSF levels of glutamate and taurine and increased CSF levels of tyrosine; decreased serum/plasma levels of aspartate, serine, tryptophan and lysine, and increased serum/plasma proline and homocysteine levels.

Conclusion

Despite the limitations of this study due to the important variability of results between different series, our findings suggest the value of CSF or serum/plasma levels of several amino acids in the discrimination of PD patients from healthy subjects, related to the levels of some amino acids.

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Authors:
F. J. Jiménez‐Jiménez, H. Alonso‐Navarro, E. García‐Martín and J. A. G. Agúndez
Article first published online:
11 Sep 2020 | DOI: 10.1111/ene.14470

Case Study

Abstract

Miller‐Fisher syndrome (MFS) is classified as a variant of Guillain–Barré syndrome (GBS), accounting for 5%–25% of all GBS cases. Since the coronavirus disease‐2019 (COVID‐19) outbreak, increasing evidence has been reported of the neurological manifestations of severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection, affecting both the central and peripheral nervous system. Here we report the clinical course, detailed cerebrospinal fluid (CSF) profile including CSF/blood antibody status, and neurochemical characteristics of a patient with a typical clinical presentation of MFS after a positive SARS‐CoV‐2 infection test.

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Authors:
M. Senel, S. Abu‐Rumeileh, D. Michel, T. Garibashvili, K. Althaus, J. Kassubek and M. Otto
Article first published online:
13 Oct 2020 | DOI: 10.1111/ene.14473

Case Study

Abstract

A 36‐year‐old woman who presented with upper limb distal weakness since the age of 15 years, with gradual progression to the lower limbs, is reported. Hereditary motor neuropathy was initially suspected based on distal weakness and hyporeflexia; however, whole exome sequencing accidentally revealed a compound heterozygous variant in the gene, and ultrasound revealed increased homogeneous echogenicity in the involved muscles, which is characteristic of myopathic changes. Muscle magnetic resonance imaging revealed fatty infiltration in all limb muscles, sparing the triceps brachii, vastus lateralis and vastus medialis. Muscle biopsy revealed intracytoplasmic rimmed vacuole, supporting the diagnosis of GNE myopathy.

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Authors:
Y.‐N. Huang, H.‐J. Chuang, H.‐W. Hsueh, H.‐C. Huang, N.‐C. Lee, C.‐C. Chao, P.‐H. Huang, Y.‐C. Lee, K.‐P. Lin, C.‐C. Yang and S.‐T. Hsieh
Article first published online:
13 Oct 2020 | DOI: 10.1111/ene.14489

Case Study

Background

Hydrocephalus or papilledema has rarely been reported in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).

Methods

We report a 65‐year‐old woman with a 12‐year history of CIDP presenting with progressive dementia, hallucination and deterioration of gait.

Results

Neurological examination revealed cognitive impairment, symmetric proximal and distal weakness with areflexia and muscle atrophy in the distal four limbs. The cerebrospinal fluid examination showed marked elevation of protein concentration. Magnetic resonance imaging revealed hydrocephalus and marked enlarged cervical and lumbar roots and plexus. The cervical cord and cauda equina were compressed by the swollen roots. A ventriculoperitoneal shunt resulted in reduction of the ventricles size along with improvement of her cognitive impairment.

Conclusion

In our patient with CIDP, hydrocephalus was likely caused by hypertrophic nerve roots. Our findings suggest that CIDP patients with pronounced hypertrophic nerve roots require careful observation.

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Authors:
A. Iwasaki, N. Kokubun, K. Funakoshi, K. Hirata and K. Suzuki
Article first published online:
13 Oct 2020 | DOI: 10.1111/ene.14492