cover image European Journal of Neurology

European Journal of Neurology

2024 - Volume 31
Issue 6 | June 2024
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ISSUE INFORMATION

Issue Information

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Article first published online:
08 May 2024 | DOI: 10.1111/ene.15882

REVIEW ARTICLE

Background and purpose

Generalized myasthenia gravis (gMG) continues to present significant challenges for clinical management due to an unpredictable disease course, frequent disease fluctuations, and varying response to therapy. The recent availability of new pharmacologic therapies presents a valuable opportunity to reevaluate how this disease is classified, assessed, and managed and identify new ways to improve the clinical care of patients with gMG.

Methods

Narrative review was made of publications identified via searches of PubMed and selected congresses (January 2000–September 2022).

Results

New consensus definitions are required to ensure consistency, to better characterize patients, and to identify patients who will benefit from specific drugs and earlier use of these agents. There is a need for more frequent, standardized patient assessment to identify the cause of motor function deficits, provide a clearer picture of the disease burden and its impact on daily living and quality of life (QoL), and better support treatment decision‐making. Novel approaches that target different components of the immune system will play a role in more precise treatment of patients with gMG, alongside the development of new algorithms to guide individualized patient management.

Conclusions

gMG has a physical, mental, and social impact, resulting in a considerable burden of disease and substantially decreased QoL, despite standard treatments. The availability of novel, targeted treatments that influence key pathological mediators of gMG, together with new biomarkers, offers the potential to optimize patient management and ultimately enables a greater number of patients to achieve minimal manifestation status and a reduced burden of disease.

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Authors:
Francesco Saccà, Emmanuelle Salort‐Campana, Saiju Jacob, Elena Cortés‐Vicente and Christiane Schneider‐Gold
Article first published online:
20 Dec 2023 | DOI: 10.1111/ene.16180

ORIGINAL ARTICLE

Background and purpose

Whilst sleep disturbances are associated with stroke, their association with stroke severity is less certain. In the INTERSTROKE study, the association of pre‐morbid sleep disturbance with stroke severity and functional outcome following stroke was evaluated.

Methods

INTERSTROKE is an international case–control study of first acute stroke. This analysis included cases who completed a standardized questionnaire concerning nine symptoms of sleep disturbance (sleep onset latency, duration, quality, nocturnal awakening, napping duration, whether a nap was planned, snoring, snorting and breathing cessation) in the month prior to stroke ( = 2361). Two indices were derived representing sleep disturbance (range 0–9) and obstructive sleep apnoea (range 0–3) symptoms. Logistic regression was used to estimate the magnitude of association between symptoms and stroke severity defined by the modified Rankin Score.

Results

The mean age of participants was 62.9 years, and 42% were female. On multivariable analysis, there was a graded association between increasing number of sleep disturbance symptoms and initially severe stroke (2–3, odds ratio [OR] 1.44, 95% confidence interval [CI] 1.07–1.94; 4–5, OR 1.66, 95% CI 1.23–2.25; >5, OR 2.58, 95% CI 1.83–3.66). Having >5 sleep disturbance symptoms was associated with significantly increased odds of functional deterioration at 1 month (OR 1.54, 95% CI 1.01–2.34). A higher obstructive sleep apnoea score was also associated with significantly increased odds of initially severe stroke (2–3, OR 1.48; 95% CI 1.20–1.83) but not functional deterioration at 1 month (OR 1.19, 95% CI 0.93–1.52).

Conclusions

Sleep disturbance symptoms were common and associated with an increased odds of severe stroke and functional deterioration. Interventions to modify sleep disturbance may help prevent disabling stroke/improve functional outcomes and should be the subject of future research.

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Authors:
Christine E. Mc Carthy, Salim Yusuf, Conor Judge, John Ferguson, Graeme J. Hankey, Shahram Oveis Gharan, Albertino Damasceno, Helle Klingenberg Iversen, Annika Rosengren, Okechukwu Ogah, Luísa Avezum, Patricio Lopez‐Jaramillo, Denis Xavier, Xingyu Wang, Sumathy Rangarajan and Martin J. O'Donnell
Article first published online:
26 Mar 2024 | DOI: 10.1111/ene.16193

REVIEW ARTICLE

Background and purpose

Research promoting the health of the brain has increased exponentially over the last decade. The importance of ‘brain health’ for multiple sclerosis (MS), as one example, is a high priority. However, as research into the concept increases, so does varied use of the term.

Methods

A scoping review, guided by the methodological framework of the Joanna Briggs Institute, was conducted to collate the evidence relating to brain health for MS. A comprehensive literature search incorporated six search strategies to retrieve both scientific and grey literature sources. All evidence sources were qualitatively charted and synthesized (meta‐synthesis) according to their definition of brain health used, outcome measures and brain‐healthy lifestyle elements.

Results

Seventy evidence sources (34 peer reviewed, 36 grey literature) were eligible for inclusion. Of these, just over half ( = 40, 57%) provided a definition of brain health. The most common definition alluded to the biomedical model of neurological reserve ( = 22, 55%), a self‐remodelling theory described to retain optimal brain function. Twenty‐nine outcome measures of brain health were identified, the most frequent being magnetic resonance imaging metrics ( = 25, 83%). Physical activity was the most prevalent brain‐healthy lifestyle element ( = 44), followed by avoidance of smoking ( = 26) and diet ( = 24).

Conclusions

Brain health should be considered a primary target for optimal disease and lifestyle management across the MS disease course. A working definition reflecting a shift from a medical lens towards broader biopsychosocial contexts that may influence brain health for people living with MS is proposed.

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Authors:
Olivia Wills and Yasmine Probst
Article first published online:
16 Jan 2024 | DOI: 10.1111/ene.16210

CORRIGENDUM

Corrigendum to “Treatment patterns in essential tremor: Real‐world evidence from a United Kingdom and France primary care database”

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Article first published online:
07 Feb 2024 | DOI: 10.1111/ene.16218

ORIGINAL ARTICLE

Background and purpose

In the coming decades, the world will face an increasing burden of neurological disorders (ND) and an urgent need to promote brain health. These challenges contrast with an insufficient neurological workforce in most countries, as well as decreasing numbers of general neurologists and neurologists attracted to work in general neurology (GN). This white paper aims to review the current situation of GN and reflect on its future.

Methods

The European Academy of Neurology (EAN) task force (TF) met nine times between November 2021 and June 2023. During the 2023 EAN annual meeting, attendees were asked to answer five questions concerning the future of GN. The document was sent for suggestions and eventually approval to the board and the presidents of the 47 national societies of the EAN.

Results

The TF first identified four relevant current and future challenges related to GN: (i) definition, (ii) practice, (iii) education, and (iv) research. The TF then identified seven initiatives to further develop GN at both the academic and community level. Finally, the TF formulated 16 recommendations to promote GN in the future.

Conclusions

GN will remain essential in the coming decades to provide rapid, accessible, and comprehensive management of patients with ND that is affordable and cost‐effective. There is also a need for research, education, and other initiatives aiming to facilitate improved working conditions, recognition, and prestige for those pursuing a career in GN.

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Authors:
Claudio Lino Alberto Bassetti, Alice Accorroni, Astri Arnesen, Hamidon Bin Basri, Thomas Berger, Peter Berlit, Paul Boon, Augustina Charway‐Felli, Jera Kruja, Steven Lewis, Michael Markowski, Marco Tulio Medina, Pamela McCombe, Elena Moro, Serefnur Ozturk, Phil Smith and Vladimira Vuletic
Article first published online:
28 Mar 2024 | DOI: 10.1111/ene.16237

ORIGINAL ARTICLE

Background and purpose

Cladribine tablets, a purine analogue antimetabolite, offer a unique treatment regimen, involving short courses at the start of the first and second year, with no further treatment needed in years 3 and 4. However, comprehensive evidence regarding patient outcomes beyond the initial 24 months of cladribine treatment is limited.

Methods

This retrospective, multicenter study enrolled 204 patients with multiple sclerosis who had completed the 2‐year course of cladribine treatment. The primary outcomes were therapeutic choices and clinical disease activity assessed by annualized relapse rate after the 2‐year treatment course.

Results

A total of 204 patients were enrolled; most patients (75.4%) did not initiate new treatments in the 12 months postcladribine. The study found a significant reduction in annualized relapse rate at the 12‐month follow‐up after cladribine completion compared to the year prior to starting therapy (0.07 ± 0.25 vs. 0.82 ± 0.80,  < 0.001). Furthermore, patients with relapses during cladribine treatment were more likely to start new therapies, whereas older patients were less likely. The safety profile of cladribine was favorable, with lymphopenia being the primary registered adverse event.

Conclusions

This study provides insights into therapeutic choices and disease activity following cladribine treatment. It highlights cladribine's effectiveness in reducing relapse rates and disability progression, reaffirming its favorable safety profile. Real‐world data, aligned with previous reports, draw attention to ocrelizumab and natalizumab as common choices after cladribine. However, larger, prospective studies for validation and a more comprehensive understanding of cladribine's long‐term impact are necessary.

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Authors:
Irene Schiavetti, Alessio Signori, Angela Albanese, Jessica Frau, Eleonora Cocco, Lorena Lorefice, Sonia di Lemme, Roberta Fantozzi, Diego Centonze, Doriana Landi, Girolama Marfia, Elisabetta Signoriello, Giacomo Lus, Chiara Zecca, Claudio Gobbi, Rosa Iodice, Leonardo Malimpensa, Cinzia Cordioli, Diana Ferraro, Francesca Ruscica, Livia Pasquali, Anna Repice, Paolo Immovilli, Maria Teresa Ferrò, Simona Bonavita, Massimiliano Di Filippo, Gianmarco Abbadessa, Flora Govone, Maria Pia Sormani, Gianmarco Abbadessa, Angela Albanese, Simona Bonavita, Martina Cardi, Emanuele Cassano, Diego Centonze, Eleonora Cocco, Antonella Conte, Cinzia Cordioli, Massimiliano Di Filippo, Sonia Di Lemme, Elena Di Sabatino, Roberta Fantozzi, Diana Ferraro, Maria Teresa Ferrò, Jessica Frau, Carolina Gabri Nicoletti, Claudio Gobbi, Flora Govone, Luigi Grimaldi, Paolo Immovilli, Rosa Iodice, Doriana Landi, Luigi Lavorgna, Lorena Lorefice, Giacomo Lus, Leonardo Malimpensa, Girolama Marfia, Giuseppina Miele, Francesca Napoli, Livia Pasquali, Anna Repice, Francesca Ruscica, Irene Schiavetti, Alessio Signori, Elisabetta Signoriello, Carmine Siniscalchi, Maria Pia Sormani, Stefano Tozza, Francesca Vitetta and Chiara Zecca
Article first published online:
28 Mar 2024 | DOI: 10.1111/ene.16250

REVIEW ARTICLE

Background and purpose

The aim was to provide insights to the characteristics of headache in the context of COVID‐19 on behalf of the Headache Scientific Panel and the Neuro‐COVID‐19 Task Force of the European Academy of Neurology (EAN) and the European Headache Federation (EHF).

Methods

Following the Delphi method the Task Force identified six relevant questions and then conducted a systematic literature review to provide evidence‐based answers and suggest specific diagnostic criteria.

Results

No data for facial pain were identified in the literature search. (1) Headache incidence during acute COVID‐19 varies considerably, with higher prevalence rates in prospective compared to retrospective studies (28.9%–74.6% vs. 6.5%–34.0%). (2) Acute COVID‐19 headache is usually bilateral or holocranial and often moderate to severe with throbbing pain quality lasting 2–14 days after first signs of COVID‐19; photo‐phonophobia, nausea, anosmia and ageusia are common associated features; persistent headache shares similar clinical characteristics. (3) Acute COVID‐19 headache is presumably caused by immune‐mediated mechanisms that activate the trigeminovascular system. (4) Headache occurs in 13.3%–76.9% following SARS‐CoV‐2 vaccination and occurs more often amongst women with a pre‐existing primary headache; the risk of developing headache is higher with the adenoviral‐vector‐type vaccines than with other preparations. (5) Headache related to SARS‐CoV‐2 vaccination is mostly bilateral, and throbbing, pressing, jolting or stabbing. (6) No studies have been conducted investigating the underlying mechanism of headache attributed to SARS‐CoV‐2 vaccines.

Conclusion

The results of this joint EAN/EHF initiative provide a framework for a better understanding of headache in the context of SARS‐CoV‐2 infection and vaccination.

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Authors:
Dimos‐Dimtirios D. Mitsikostas, Edoardo Caronna, Marina De Tommaso, Christina I. Deligianni, Esme Ekizoglu, Hayrunnisa Bolay, Carl H. Göbel, Espen Saxhaug Kristoffersen, Christian Lampl, Elena Moro, Patricia Pozo‐Rosich, Johann Sellner, Gisela Terwindt and Pablo Irimia‐Sieira
Article first published online:
28 Feb 2024 | DOI: 10.1111/ene.16251

ORIGINAL ARTICLE

Background and purpose

In Rwanda, epilepsy prevalence ranges between 29‰ and 49‰. Many women living with epilepsy (WwE) are of childbearing age. Epilepsy characteristics and management, contraception, pregnancy, puerperium and stigma in WwE presenting at the neurology clinic of Ndera, Rwanda, were investigated.

Methods

This prospective cross‐sectional study investigated demographics, epilepsy characteristics, treatment, contraception, folic acid use, pregnancy, puerperium and stigma in WwE aged ≥18 years. Subgroups were analysed by status of any pregnancy and time of epilepsy diagnosis relative to pregnancy, with significant differences expected.

Results

During December 2020 and January 2021, a hundred WwE were enrolled (range 18–67 years). Fifty‐two women had never been pregnant, 39 women had epilepsy onset before pregnancy and nine were diagnosed after pregnancy. No significant differences in age, marital status or occupation were observed. Contraception was used by 27%, of whom 50% were taking enzyme‐inducing anti‐epileptic medication. Valproate was used by 46% of WwE of reproductive age. Thirty‐nine women with epilepsy onset before pregnancy reported 91 pregnancies, with 14% spontaneous abortions. None used folic acid before conception, and 59% only during pregnancy. Five of 78 newborns were preterm. No offspring had major congenital malformations. Nearly 25% of WwE were not compliant with their anti‐epileptic medication schedule during pregnancy or breastfeeding. Internalized stigma was observed in more than 60%. Up to 25% had been discriminated against at school or work.

Conclusion

A comprehensive strategy considering the reproductive health and societal challenges of WwE is needed to drive optimal epilepsy management, reproductive health outcomes and societal inclusion.

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Authors:
Dirk E. Teuwen, Arlène Ndayisenga, Ieme Garrez, Fidèle Sebera, Sylvestre Mutungirehe, Josiane Umwiringirwa, Mustapha Ndiaye, Georgette Umuhoza, Paul A. J. M. Boon and Peter Dedeken
Article first published online:
01 Mar 2024 | DOI: 10.1111/ene.16254

ORIGINAL ARTICLE

Background and purpose

The value of intravenous thrombolysis (IVT) in eligible tandem lesion patients undergoing endovascular treatment (EVT) is unknown. We investigated treatment effect heterogeneity of EVT + IVT versus EVT‐only in tandem lesion patients. Additional analyses were performed for patients undergoing emergent internal carotid artery (ICA) stenting.

Methods

SWIFT DIRECT randomized IVT‐eligible patients to either EVT + IVT or EVT‐only. Primary outcome was 90‐day functional independence (modified Rankin Scale score 0–2) after the index event. Secondary endpoints were reperfusion success, 24 h intracranial hemorrhage rate, and 90‐day all‐cause mortality. Interaction models were fitted for all predefined outcomes.

Results

Among 408 included patients, 63 (15.4%) had a tandem lesion and 33 (52.4%) received IVT. In patients with tandem lesions, 20 had undergone emergent ICA stenting (EVT + IVT: 9/33, 27.3%; EVT: 11/30, 36.7%). Tandem lesion did not show treatment effect modification of IVT on rates of functional independence (tandem lesion EVT + IVT vs. EVT: 63.6% vs. 46.7%, non‐tandem lesion EVT + IVT vs. EVT: 65.6% vs. 58.2%; for interaction = 0.77). IVT also did not increase the risk of intracranial hemorrhage  among tandem lesion patients (tandem lesion EVT + IVT vs. EVT: 34.4% vs. 46.7%, non‐tandem lesion EVT + IVT vs. EVT: 33.5% vs. 26.3%; for interaction = 0.15). No heterogeneity was noted for other endpoints ( for interaction > 0.05).

Conclusions

No treatment effect heterogeneity of EVT + IVT versus EVT‐only was observed among tandem lesion patients. Administering IVT in patients with anticipated emergent ICA stenting seems safe, and the latter should not be a factor to consider when deciding to administer IVT before EVT.

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Authors:
Adnan Mujanovic, Tomas Dobrocky, Waltraud Pfeilschifter, Luca Remonda, Jildaz Caroff, Daniel Behme, David J. Seiffge, Carlo W. Cereda, Georg Kägi, Joe Leyon, Eike I. Piechowiak, Vincent Costalat, Judith Wagner, Emmanuel Chabert, Thomas R. Meinel, Olav Jansen, Angelika Alonso, Christian Loehr, David S. Liebeskind, Jan Gralla, Urs Fischer and Johannes Kaesmacher
Article first published online:
26 Feb 2024 | DOI: 10.1111/ene.16256

POSITION PAPER

Abstract

Angiographically negative subarachnoid hemorrhage (anSAH) has traditionally been considered a benign condition, mainly because of favorable outcomes in the acute stage in comparison to the often negative acute outcomes of aneurysmal subarachnoid hemorrhage. However, a growing body of research in recent years shows that anSAH often leads to cognitive impairments, emotional distress, and difficulties in resuming work or other daily life activities. Therefore, in this position paper, we call for a change in neurological care and a shift in patient communication, emphasizing the importance of addressing patient needs and fostering realistic expectations rather than solely focusing on the benign nature of the condition.

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Authors:
Sara Khosdelazad, Jacoba M. Spikman, Sofie Solvang, Marieke J. H. Wermer, Niall Pender, Lieke S. Jorna, Sandra E. Rakers, Anouk van der Hoorn, Mohsen Javadpour, Rob J. M. Groen and Anne M. Buunk
Article first published online:
15 Mar 2024 | DOI: 10.1111/ene.16257

ORIGINAL ARTICLE

Background

Multiple system atrophy (MSA), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) show a high prevalence and rapid progression of dysphagia, which is associated with reduced survival. Despite this, the evidence base for gastrostomy is poor, and the optimal frequency and outcomes of this intervention are not known. We aimed to characterise the prevalence and outcomes of gastrostomy in patients with these three atypical parkinsonian disorders.

Method

We analysed data from the natural history and longitudinal cohorts of the PROSPECT‐M‐UK study with up to 60 months of follow‐up from baseline. Survival post‐gastrostomy was analysed using Kaplan–Meier survival curves.

Results

In a total of 339 patients (mean age at symptom onset 63.3 years, mean symptom duration at baseline 4.6 years), dysphagia was present in >50% across all disease groups at baseline and showed rapid progression during follow‐up. Gastrostomy was recorded as recommended in 44 (13%) and performed in 21 (6.2%; MSA 7, PSP 11, CBS 3) of the total study population. Median survival post‐gastrostomy was 24 months compared with 12 months where gastrostomy was recommended but not done ( = 0.008). However, this was not significant when correcting for age and duration of symptoms at the time of procedure or recommendation.

Conclusions

Gastrostomy was performed relatively infrequently in this cohort despite the high prevalence of dysphagia. Survival post‐gastrostomy was longer than previously reported, but further data on other outcomes and clinician and patient perspectives would help to guide use of this intervention in MSA, PSP and CBS.

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Authors:
Christopher Kobylecki, Viorica Chelban, Yee Yen Goh, Emilia Michou, Riona Fumi, Marte Theilmann Jensen, Rahema Mohammad, Alyssa Costantini, Nirosen Vijiaratnam, Samantha Pavey, Nicola Pavese, P. Nigel Leigh, James B. Rowe, Michele T. Hu, Alistair Church, Huw R. Morris and Henry Houlden
Article first published online:
26 Feb 2024 | DOI: 10.1111/ene.16258

ORIGINAL ARTICLE

Background and purpose

Chronic traumatic encephalopathy (CTE) has gained widespread attention due to its association with multiple concussions and contact sports. However, CTE remains a postmortem diagnosis, and the link between clinical symptoms and CTE pathology is poorly understood. This study aimed to investigate the presence of copathologies and their impact on symptoms in former contact sports athletes.

Methods

This was a retrospective case series design of 12 consecutive cases of former contact sports athletes referred for autopsy. Analyses are descriptive and include clinical history as well as the pathological findings of the autopsied brains.

Results

All participants had a history of multiple concussions, and all but one had documented progressive cognitive, psychiatric, and/or motor symptoms. The results showed that 11 of the 12 participants had evidence of CTE in the brain, but also other copathologies, including different combinations of tauopathies, and other rare entities.

Conclusions

The heterogeneity of symptoms after repetitive head injuries and the diverse pathological combinations accompanying CTE complicate the prediction of CTE in clinical practice. It is prudent to consider the possibility of multiple copathologies when clinically assessing patients with repetitive head injuries, especially as they age, and attributing neurological or cognitive symptoms solely to presumptive CTE in elderly patients should be discouraged.

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Authors:
Foad Taghdiri, Mozhgan Khodadadi, Nusrat Sadia, Asma Mushtaque, Olivia F. T. Scott, Veronica Hirsch‐Reinhagen, Charles Tator, Richard Wennberg, Gabor G. Kovacs and M. Carmela Tartaglia
Article first published online:
25 Feb 2024 | DOI: 10.1111/ene.16259

SHORT COMMUNICATION

Background and purpose

This study compared the features of isolated rapid eye movement (REM) sleep behavior disorder (iRBD) and antidepressant‐related REM sleep behaviour disorder (RBD) with the aim of highlighting markers that might distinguish the two entities.

Methods

The observational cohort study included RBD patients with and without antidepressant use (antiD+ and antiD− patients, respectively), without cognitive impairment and parkinsonism. Clinical features of RBD, subtle motor and non‐motor symptoms of parkinsonism, sleep architecture, REM atonia index, dopamine transporter‐single photon emission computed tomography (DAT‐SPECT) and skin biopsies for the intraneuronal alpha‐synuclein (α‐syn), were evaluated in the baseline work‐up.

Results

Thirty‐nine patients, 10 antiD+ and 29 antiD−, were included. AntiD+ patients (more frequently female) reported more psychiatric symptoms, less violent dream enactment, and less frequent hyposmia. Dermal α‐syn was detected in 93.1% of antiD− versus 30% of antiD+ patients ( = 0.00024). No differences appeared in other motor and non‐motor symptoms, Movement Disorder Society–Unified Parkinson's Disease Rating Scale part III score, DAT‐SPECT, or polysomnographic features.

Conclusions

Patients with antidepressant‐related RBD have clinical and neuropathological features suggesting a lower risk of evolution than those with iRBD.

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Authors:
Francesco Biscarini, Fabio Pizza, Stefano Vandi, Alex Incensi, Elena Antelmi, Vincenzo Donadio, Raffaele Ferri, Rocco Liguori and Giuseppe Plazzi
Article first published online:
26 Feb 2024 | DOI: 10.1111/ene.16260

ORIGINAL ARTICLE

Background and purpose

The etiological distribution of oculomotor nerve palsy has varied amongst the studies. This study aimed to define the clinical features and underlying etiologies of isolated oculomotor nerve palsy by recruiting patients from all departments in a referral‐based university hospital.

Methods

The medical records of 672 patients who had a confirmed diagnosis of isolated oculomotor nerve palsy at all departments of Seoul National University Bundang Hospital, Seongnam, South Korea, from 2003 to 2020 were reviewed. A proportion of the etiology of isolated oculomotor nerve palsy was also compared with that of patients pooled from the previous studies that were searched on PubMed in May 2022.

Results

The most common etiology was microvascular ( = 168, 26.5%), followed by vascular anomalies ( = 110, 17.4%), neoplastic ( = 86, 13.6%), inflammatory ( = 79, 12.5%), idiopathic ( = 60, 9.5%) and traumatic ( = 53, 8.4%). Neurologists were mainly involved in the management of microvascular and inflammatory oculomotor nerve palsies whilst ophthalmologists mainly participated in the care of idiopathic, neoplastic and traumatic palsies. Neurosurgeons mostly took care of oculomotor nerve palsy due to vascular anomalies.

Conclusions

The proportion of etiologies of isolated oculomotor nerve palsy may differ according to the specialties involved in the management. The results of previous studies on the etiological distribution of isolated oculomotor nerve palsy should be interpreted with this consideration.

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Authors:
Hyun‐Jae Kim, Hyo‐Jung Kim, Jeong‐Yoon Choi, Hee Kyung Yang, Jeong‐Min Hwang and Ji‐Soo Kim
Article first published online:
27 Feb 2024 | DOI: 10.1111/ene.16261

SHORT COMMUNICATION

Background and purpose

The aim was to test the specificity of phenomenological criteria for functional tic‐like behaviours (FTLBs). The European Society for the Study of Tourette Syndrome (ESSTS) criteria for the diagnosis of FTLBs include three major criteria: age at symptom onset ≥12 years, rapid evolution of symptoms and specific phenomenology.

Methods

Children and adolescents with primary tic disorders have been included in a Registry in Calgary, Canada, since 2017. Using the Yale Global Tic Severity Scale, the proportion of youth with primary tic disorders who met specific phenomenological criteria for FTLBs at first visit was assessed: (1) having ≥1 specific complex motor tic commonly seen in FTLBs, including complex arm/hand movements, self‐injurious behaviour, blocking, copropraxia; (2) having ≥1 specific complex phonic tic commonly seen in FTLBs, including saying words, phrases, disinhibited speech, coprolalia; (3) having a greater number of complex tics than simple tics. Children seen for the first time between 2017 and 2019 and between 2021 and 2023 were analysed separately.

Results

Of 156 participants included between 2017 and 2019, high specificity (94.2%) of the age at onset criterion (≥12 years) and of having at least two complex motor behaviours and one complex phonic behaviour at first visit (96.2%) was observed. Some of the complex motor tics had lower specificity. The specificity of the FTLB diagnostic criterion of having more complex tics than simple tics was 89.7%. There was no significant difference in specificity of the criteria for children seen for the first time between 2017 and 2019 and between 2021 and 2023 ( = 149).

Conclusion

This information supports the use of the ESSTS criteria for FTLBs in clinical practice.

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Authors:
Christelle Nilles, Davide Martino and Tamara Pringsheim
Article first published online:
23 Feb 2024 | DOI: 10.1111/ene.16262

LETTER TO THE EDITOR

Functional neurological disorder, factitious disorder, and the missing health care workers

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Authors:
Richard A. Kanaan
Article first published online:
23 Feb 2024 | DOI: 10.1111/ene.16263

GUIDELINES

Background

This update of the guideline on the management of amyotrophic lateral sclerosis (ALS) was commissioned by the European Academy of Neurology (EAN) and prepared in collaboration with the European Reference Network for Neuromuscular Diseases (ERN EURO‐NMD) and the support of the European Network for the Cure ALS (ENCALS) and the European Organization for Professionals and Patients with ALS (EUpALS).

Methods

Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology was used to assess the effectiveness of interventions for ALS. Two systematic reviewers from Cochrane Response supported the guideline panel. The working group identified a total of 26 research questions, performed systematic reviews, assessed the quality of the available evidence, and made specific recommendations. Expert consensus statements were provided where insufficient evidence was available.

Results

A guideline mapping effort revealed only one other ALS guideline that used GRADE methodology (a National Institute for Health and Care Excellence [NICE] guideline). The available evidence was scarce for many research questions. Of the 26 research questions evaluated, the NICE recommendations could be adapted for 8 questions. Other recommendations required updates of existing systematic reviews or de novo reviews. Recommendations were made on currently available disease‐modifying treatments, multidisciplinary care, nutritional and respiratory support, communication aids, psychological support, treatments for common ALS symptoms (e.g., muscle cramps, spasticity, pseudobulbar affect, thick mucus, sialorrhea, pain), and end‐of‐life management.

Conclusions

This update of the guideline using GRADE methodology provides a framework for the management of ALS. The treatment landscape is changing rapidly, and further updates will be prepared when additional evidence becomes available.

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Authors:
Philip Van Damme, Ammar Al‐Chalabi, Peter M. Andersen, Adriano Chiò, Philippe Couratier, Mamede De Carvalho, Orla Hardiman, Magdalena Kuźma‐Kozakiewicz, Albert Ludolph, Christopher J. McDermott, Jesus S. Mora, Susanne Petri, Katrin Probyn, Evy Reviers, François Salachas, Vincenzo Silani, Ole‐Bjørn Tysnes, Leonard H. van den Berg, Gemma Villanueva and Markus Weber
Article first published online:
12 Mar 2024 | DOI: 10.1111/ene.16264

EDITORIAL

Multidisciplinary management and care in rare neuromuscular disorders: A call for action

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Authors:
Kristin Ørstavik, Andreas Dybesland Rosenberger, Hanne Ludt Fossmo, Marianne Nordstrøm and Marianne de Visser
Article first published online:
29 Feb 2024 | DOI: 10.1111/ene.16265

ORIGINAL ARTICLE

Background and purpose

Thalamic alterations have been reported as a major feature in presymptomatic and symptomatic patients carrying the mutation across the frontotemporal dementia–amyotrophic lateral sclerosis (ALS) spectrum. Specifically, the pulvinar, a high‐order thalamic nucleus and timekeeper for large‐scale cortical networks, has been hypothesized to be involved in ‐related neurodegenerative diseases. We investigated whether pulvinar volume can be useful for differential diagnosis in ALS mutation carriers and noncarriers and how underlying functional connectivity changes affect this region.

Methods

We studied 19 ALS mutation carriers () accurately matched with wild‐type ALS (−) and ALS mimic () patients using structural and resting‐state functional magnetic resonance imaging data. Pulvinar volume was computed using automatic segmentation. Seed‐to‐voxel functional connectivity analyses were performed using seeds from a pulvinar functional parcellation.

Results

Pulvinar structural integrity had high discriminative values for patients compared to (area under the curve [AUC] = 0.86) and − (AUC = 0.77) patients, yielding a volume cutpoint of approximately 0.23%. Compared to , − showed increased anterior, inferior, and lateral pulvinar connections with bilateral occipital–temporal–parietal regions, whereas showed no differences. patients when compared to − patients showed reduced pulvinar–occipital connectivity for anterior and inferior pulvinar seeds.

Conclusions

Pulvinar volume could be a differential biomarker closely related to the mutation. A pulvinar–cortical circuit dysfunction might play a critical role in disease progression and development, in both the genetic phenotype and ALS wild‐type patients.

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Authors:
Anna Nigri, Mario Stanziano, Davide Fedeli, Umberto Manera, Stefania Ferraro, Jean Paul Medina Carrion, Sara Palermo, Laura Lequio, Federica Denegri, Federica Agosta, Edoardo Gioele Spinelli, Massimo Filippi, Marina Grisoli, Maria Consuelo Valentini, Filippo De Mattei, Antonio Canosa, Andrea Calvo, Adriano Chiò, Maria Grazia Bruzzone and Cristina Moglia
Article first published online:
12 Mar 2024 | DOI: 10.1111/ene.16266

ORIGINAL ARTICLE

Background and purpose

The transition to adult services, and subsequent glucocorticoid management, is critical in adults with Duchenne muscular dystrophy. This study aims (1) to describe treatment, functional abilities, respiratory and cardiac status during transition to adulthood and adult stages; and (2) to explore the association between glucocorticoid treatment after loss of ambulation (LOA) and late‐stage clinical outcomes.

Methods

This was a retrospective single‐centre study on individuals with Duchenne muscular dystrophy (≥16 years old) between 1986 and 2022. Logistic regression, Cox proportional hazards models and survival analyses were conducted utilizing data from clinical records.

Results

In all, 112 individuals were included. Mean age was 23.4 ± 5.2 years and mean follow‐up was 18.5 ± 5.5 years. At last assessment, 47.2% were on glucocorticoids; the mean dose of prednisone was 0.38 ± 0.13 mg/kg/day and of deflazacort 0.43 ± 0.16 mg/kg/day. At age 16 years, motor function limitations included using a manual wheelchair (89.7%), standing (87.9%), transferring from a wheelchair (86.2%) and turning in bed (53.4%); 77.5% had a peak cough flow <270 L/min, 53.3% a forced vital capacity percentage of predicted <50% and 40.3% a left ventricular ejection fraction <50%. Glucocorticoids after LOA reduced the risk and delayed the time to difficulties balancing in the wheelchair, loss of hand to mouth function, forced vital capacity percentage of predicted <30% and forced vital capacity <1 L and were associated with lower frequency of left ventricular ejection fraction <50%, without differences between prednisone and deflazacort. Glucocorticoid dose did not differ by functional, respiratory or cardiac status.

Conclusion

Glucocorticoids after LOA preserve late‐stage functional abilities, respiratory and cardiac function. It is suggested using functional abilities, respiratory and cardiac status at transition stages for adult services planning.

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Authors:
Marianela Schiava, Robert Muni Lofra, John P. Bourke, Jordi Díaz‐Manera, Meredith K. James, Maha A. Elseed, Monika Malinova, Jassi Michel‐Sodhi, Dionne Moat, Elisabetta Ghimenton, Michelle Mccallum, Carla Florencia Bolaño Díaz, Anna Mayhew, Karen Wong, Mark Richardson, Giorgio Tasca, Gail Eglon, Michelle Eagle, Cathy Turner, Emma Heslop, Volker Straub, Chiara Marini Bettolo and Michela Guglieri
Article first published online:
31 Mar 2024 | DOI: 10.1111/ene.16267

ORIGINAL ARTICLE

Background and purpose

In amyotrophic lateral sclerosis (ALS), there is an unmet need for more precise patient characterization through quantitative, ideally operator‐independent, assessments of disease extent and severity. Radially sampled averaged magnetization inversion recovery acquisitions (rAMIRA) magnetic resonance imaging enables gray matter (GM) and white matter (WM) area quantitation in the cervical and thoracic spinal cord (SC) with optimized contrast. We aimed to investigate rAMIRA‐derived SC GM and SC WM areas and their association with clinical phenotype and disability in ALS.

Methods

A total of 36 patients with ALS (mean [SD] age 61.7 [12.6] years, 14 women) and 36 healthy, age‐ and sex‐matched controls (HCs; mean [SD] age 63.1 [12.1] years, 14 women) underwent two‐dimensional axial rAMIRA imaging at the inter‐vertebral disc levels C2/3–C5/C6 and the lumbar enlargement level . ALS Functional Rating Scale–revised (ALSFRS‐R) score, muscle strength, and sniff nasal inspiratory pressure (SNIP) were assessed.

Results

Compared to HCs, GM and WM areas were reduced in patients at all cervical levels ( < 0.0001). GM area ( = 0.0001), but not WM area, was reduced at . Patients with King's Stage 3 showed significant GM atrophy at all levels, while patients with King's Stage 1 showed significant GM atrophy selectively at . SC GM area was significantly associated with muscle force at corresponding myotomes. GM area at C3/C4 was associated with ALSFRS‐R ( < 0.001) and SNIP ( = 0.0016).

Conclusion

Patients with ALS assessed by rAMIRA imaging show significant cervical and thoracic SC GM and SC WM atrophy. SC GM area correlates with muscle strength and clinical disability. GM area reduction at may be an early disease sign. Longitudinal studies are warranted.

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Authors:
Maria Janina Wendebourg, Matthias Weigel, Claudia Weidensteiner, Laura Sander, Eva Kesenheimer, Nicole Naumann, Tanja Haas, Philipp Madoerin, Nathalie Braun, Christoph Neuwirth, Markus Weber, Kathleen Jahn, Ludwig Kappos, Cristina Granziera, Kathi Schweikert, Michael Sinnreich, Oliver Bieri and Regina Schlaeger
Article first published online:
11 Mar 2024 | DOI: 10.1111/ene.16268

ORIGINAL ARTICLE

Background and purpose

Higher latitude has been associated with increased occurrence of multiple sclerosis (MS) and with more severe disease. The aim was to study the impact of sun exposure habits on MS disease progression and health‐related quality of life.

Methods

Patients from a population‐based case–control study were categorized based on sun exposure habits at diagnosis and were followed up to 15 years post‐diagnosis through the Swedish MS registry ( = 3314) with regard to changes in Expanded Disability Status Scale (EDSS). Linear mixed models were used to analyse long‐term changes, while Cox regression models, with 95% confidence intervals, were used to investigate outcomes, including 24‐week confirmed diasability worsening, EDSS3, EDSS4, and physical worsening as measured by the physical component of the Multiple Sclerosis Impact Scale 29.

Results

Compared to average sun exposure (median value), low exposure to sunlight was associated with faster EDSS progression, increased risk of confirmed disability worsening (hazard ratio [HR] 1.48, 95% CI 1.21–1.81), increased risk of reaching EDSS 3 (HR 1.35, 95% CI 1.02–1.79), EDSS 4 (HR 1.47, 95% CI 1.01–2.20) and self‐reported physical worsening (HR 1.27, 95% CI 1.00–1.62). Significant trends revealed a lower risk of unfavourable outcomes with increasing sun exposure.

Conclusions

Very low levels of sun exposure are associated with worse disease progression and health‐related quality of life in patients with MS.

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Authors:
Jing Wu, Tomas Olsson, Lars Alfredsson and Anna Karin Hedström
Article first published online:
05 Mar 2024 | DOI: 10.1111/ene.16269

LETTER TO THE EDITOR

Reevaluating the impact of antihypertensive medication on intracranial aneurysm formation: a call for clarification and further study

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Authors:
Zihan Yin, Anjie Wang and Jizong Zhao
Article first published online:
29 Feb 2024 | DOI: 10.1111/ene.16271

LETTER TO THE EDITOR

Reply to the letter by Yin et al. ‘Reevaluating the impact of antihypertensive medication on intracranial aneurysm formation: a call for clarification and further study’

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Authors:
Juhana Frösen, Sari Räisänen and Antti Lindgren
Article first published online:
06 Mar 2024 | DOI: 10.1111/ene.16272

ORIGINAL ARTICLE

Background and purpose

Paraneoplastic neurological autoimmunity is well described with small‐cell lung cancer, but information is limited for other neuroendocrine neoplasms (NENs).

Methods

Adult patients with histopathologically confirmed non‐pulmonary NENs, neurological autoimmunity within 5 years of NEN diagnosis, and neural antibody testing performed at the Mayo Clinic Neuroimmunology Laboratory (January 2008 to March 2023) were retrospectively identified. Control sera were available from patients with NENs without neurological autoimmunity (116).

Results

Thirty‐four patients were identified (median age 68 years, range 31–87). The most common primary tumor sites were pancreas (nine), skin (Merkel cell, eight), small bowel/duodenum (seven), and unknown (seven). Five patients received immune checkpoint inhibitor (ICI) therapy before symptom onset; symptoms preceded cancer diagnosis in 62.1% of non‐ICI‐treated patients. The most frequent neurological phenotypes (non‐ICI‐treated) were movement disorders (12; cerebellar ataxia in 10), dysautonomia (six), peripheral neuropathy (eight), encephalitis (four), and neuromuscular junction disorders (four). Neural antibodies were detected in 55.9% of patients studied (most common specificities: P/Q‐type voltage‐gated calcium channel [seven], muscle‐type acetylcholine receptor [three], anti‐neuronal nuclear antibody type 1 [three], and neuronal intermediate filaments [two]), but in only 6.9% of controls. Amongst patients receiving cancer or immunosuppressive therapy, 51.6% had partial or complete recovery. Outcomes were unfavorable in 48.3% (non‐ICI‐treated) and neural autoantibody positivity was associated with poor neurological outcome.

Discussion

Neurological autoimmunity associated with non‐pulmonary NENs is often multifocal and can be treatment responsive, underscoring the importance of rapid recognition and early treatment.

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Authors:
Georgios Mangioris, Thorvardur R. Halfdanarson, Vanda A. Lennon, Bryce K. Chang, Divyanshu Dubey, P. James B. Dyck, Eoin P. Flanagan, Andrew McKeon, John R. Mills, Sean J. Pittock and Anastasia Zekeridou
Article first published online:
11 Mar 2024 | DOI: 10.1111/ene.16273

SHORT COMMUNICATION

Background and purpose

Patients with acute ischaemic stroke and a large vessel occlusion who present to a non‐endovascular‐capable centre often require inter‐hospital transfer for thrombectomy. Whether the inter‐hospital transfer time is associated with 3‐month functional outcome is poorly known.

Methods

Acute stroke patients enrolled between January 2015 and December 2022 in the prospective French multicentre Endovascular Treatment of Ischaemic Stroke registry were retrospectively analysed. Patients with an anterior circulation large vessel occlusion transferred from a non‐endovascular to a comprehensive stroke centre for thrombectomy were eligible. Inter‐hospital transfer time was defined as the time between imaging in the referring hospital and groin puncture for thrombectomy. The relationship between transfer time and favourable 3‐month functional outcome (modified Rankin Scale 0–2) was assessed through a mixed logistic regression model adjusting for centre and symptom‐onset‐to‐referring‐hospital imaging time, age, sex, diabetes, referring hospital National Institutes of Health Stroke Scale score, Alberta Stroke Programme Early Computed Tomography Score, occlusion site and intravenous thrombolysis use.

Results

Overall, 3769 patients were included (median inter‐hospital transfer time 161 min, interquartile range 128–195; 46% with favourable outcome). A longer transfer time was independently associated with lower rates of favourable outcome ( < 0.001). Compared to patients with transfer time below 120 min, there was a 15% reduction in the odds of achieving favourable outcome for transfer times between 120 and 180 min (adjusted odds ratio 0.85; 95% confidence interval 0.67–1.07), and a 36% reduction for transfer times beyond 180 min (adjusted odds ratio 0.64; 95% confidence interval 0.50–0.81).

Conclusions

A shorter inter‐hospital transfer time is strongly associated with favourable 3‐month functional outcome. A speedier inter‐hospital transfer is of critical importance to improve outcome.

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Authors:
Pierre Seners, Maeva Khyheng, Julien Labreuche, Bertrand Lapergue, Fernando Pico, Bertrand Lapergue, Adrien Wang, Arturo Consoli, Oguzhan Coskun, Federico Di Maria, Silvia Pizzuto, Alessandro Sgreccia, Charline Benoit, Lucas Gorza, David Weisenburger‐Lile, Waliyde Jabeur, Maia Tchikviladze, Serge Evrard, Georges Rodesch, Raphaël Blanc, Michel Obadia, Jean‐Philippe Desilles, Michel Piotin, Pierre Seners, Stanislas Smajda, Simon Escalard, Benjamin Maier, Candice Sabben, Hocine Redjem, Mikael Mazhigi, Grace Adwane, François Delvoye, Amira Al Raaisi, William Boisseau, Adnan Altayeb, Erwan Robichon, Igor Raynouard, Cristina Hobeanu, Omer Eker, Tae‐Hee Cho, Laurent Derex, Julia Fontaine, Laura Mechtouff, Norbert Nighoghossian, ONG Elodie, Lucie Rascle, Roberto Riva, Françis Turjman, Morgane Laubacher, Mehdi Beyragued, Yves Berthezene, Marc Hermier, Ameli Roxanna, Alexandre Bani‐Sadr, Andrea Filip, Matteo Cappucci, Pierre Pernot, Paul Clottes, Benjamin Daumas Duport, Pierre Louis Alexandre, Hubert Desal, Solene De Gaalon, Benoît Guillon, Cécile Preterre, Guillaume Tessier, Arthur Lionnet, Benjamin Gory, Lisa Humbertjean‐Selton, René Anxionnat, Anne‐Laure Derelle, Liang Liao, Emmanuelle Schmitt, Sophie Planel, Sébastien Richard, Gioia Mione, Jean‐Christophe Lacour, Marian Douarinou, Emilien Micard, Bailiang Chen, Gérard Audibert, Agnès Masson, ALB Lionel, Marine Beaumont, Adriana Tabarna, Marcela Voicu, Grégoire Barthel, Iona Podar, Madalina Brezeanu, Marie Reitter, François Zhu, René Anxionnat, Gaultier Marnat, Jean‐Sébastien Liegey, Pierre Briau, Victoire Lyon, Igor Sibon, Xavier Barreau, Jean Papaxanthos, Jerome Berge, Sabrina Debruxelles, Stéphane Olindo, Mathilde Poli, Pauline Renou, Sharmila Sagnier, Thomas Tourdias, Thomas Courret, Malgorzata Milnerowicz, François Rouanet, Benoit Legghe, Aurelie Boyer, Tristan Kerdraon, Lisa Saleille, Laurine Bastardo, Cyril Dargazanli, Vincent Costalat, Federico Cagnazzo, Pierre‐Henri Lefevre, Grégory Gascou, Quentin Varnier, François Louis Collemiche, Isabelle Mourand, Caroline Arquizan, Lucas Corti, Adrien Ter Schiphorst, Imad Derraz, Laurent Spelle, Jildaz Caroff, Christian Denier, Vanessa Chalumeau, Cristian Mihalea, Nicolas Legris, Augustin Ozanne, Leon Ikka, Olivier Chassin, Sophie Gallas, Laura Venditti, Mariana Sarov, Jonathan Cortese, Jean‐Christophe Ferre, Stephane Vannier, Maria Veronica Lassalle, Jean‐Yves Gauvrit, Clément Tracol, Cécile Malrain, Edouard Beaufreton, Quentin Alias, Julien Hissier, Maud Guillen, François Eugene, Julien Boucherit, Cyril Chivot, Audrey Courselle, Sandrine Canaple, Chantal Lamy, Kevin Delaforge, Manuel Fernandez, Jérémie Vial, Quentin Laferte, Xavier Desdoit, Serge Timsit, Aurore Jourdain, Jean‐Christophe Gentric, Julien Ognard, Mourad Cheddad El Aouni, Irina Viakhireva, Jordan Coris, François‐Mathias Merrien, Denis Marechal, Marie Bruguet, Philippe Goas, Marion Boulanger, Emmanuel Touze, Charlotte Barbier, Romain Schneckenburger, Julien Cogez, Sophie Guettier, Estelle La Porte, Jean Bouchart, Mohammad Ismail, Charbel Mounayer, Aymeric Rouchaud, Suzana Saleme, Géraud Forestier, Sonia Alamowitch, Charlotte Rosso, Flore Baronnet, Sophie Crozier, Anne Leger, Laure Bottin, Sam Ghazanfari, Marion Yger, Stephen Delorme, Aymeric Wittwer, Christine Vassilev, Gaspard Gerschenfeld, Clémence Blanc, Antonio Rainone, Frédéric Clarençon, Kevin Premat, Eimad Shotar, Stéphanie Lenck, Nader Sourour, Julien Allard, Pierre Marie Chiaroni, Olivier Naggara, Guillaume Turc, Wagih Ben Hassen, Denis Trystram, Christine Rodriguez‐Regent, Laza‐Nomenjanahary Finoana, Hugo Gortais, Ozlem Ozkul‐Wermester, Chrysanthi Papagiannaki, Evelyne Massardier, Aude Triquenot, Margaux Lefebvre, Julien Burel, Florian Basille, Adelya Curado, Alain Viguier, Christophe Cognard, Anne Christine Januel, Jean‐François Albucher, Lionel Calviere, Jean‐Marc Olivot, Nicolas Raposo, Fabrice Bonneville, Guillaume Bellanger, Louis Fontaine, Philippe Tall, Federico Sacchetti, Frédéric Bourdain, Patricia Bernady, Guillaume Ballan, Stephanie Bannier, Emmanuel Ellie, Olivier Flabeau, Julia Potenza, Antoine Soulages, Laurent Lagoarde‐Segot, Hélène Cailliez, Louis Veunac, David Higue, Quentin Bourgeois‐Beauvais, Anthony Lebras, Sarah Adam, Benoit Pegat, Arnaud Le Guen, François Chedeville, Jérémy Jouan, Rémi Allibert, Alexandre Courtois, Lucile Lescot, Dorothée Videt, Thibaut Lapotre, Johann Sebastian Richter, Bruno Thierry Barroso, Camille Dahan, Alexis Gonnet, Régis Hubrecht, Zoé Lepine, Hélène Castagnet, Raluca Marasescu, Olivier Heck, Pauline Cuisenier, Olivier Detante, Isabelle Favre Wiki, Clémentine Bonaz, Katia Garambois, Loic Legris, Adrian Kastler, Kamel Boubagra, Corentin Berthet, Stéphane Charara, Florent Lepilliet, Jérémie Papassin, François Lun, Carole Henry, Laurence Berthon, Mélanie Roussel, Richard Macrez, Serkan Cakmak, Victor Dumas, Jean Philippe Neau, Nathalie Nasr, Valérie Wolff, Raoul Pop, Véronique Quenardelle, Valérie Lauer, Irène Pierre‐Paul, Roxana Gheoca, Leonard Lorant, Solène Moulin, Vi Tuan Hua, Paolo Pagano, Alexandre Doucet, Christophe Gelmini, Pierre‐François Manceau, Laurenti Paiusan, Isabelle Serre, Sébastien Soize, Thi Ngoc Phuong Nguyen, Maher Sahnoun, Nathalie Caucheteux, Pablo Lebedinsky, Federico Bolognini, Francis Vuillemet, Anna Ferrier, Abderrahim Zerroug, Ricardo Moreno, Emmanuel Chabert, Elie Lteif, Pauline Paris, Nathalie Bourgois, Marie Raquin, Anne Pasco‐Papon, Jean Baptiste Girot, Alderic Lecluse, Sophie Godard, Vincent L’allinec, Alice Corfu, Kevin Janot, Richard Bibi, Marie Gaudron, Arnaud Bretonniere, Mariam Annan, Héloïse Ifergan, Grégoire Boulouis, Marco Pasi, Séverine Debiais, Elisabeth Molinier, Denis Herbreteau, Fouzi Bala, Clémence Hoche, Anthony Wietrich, Valérie Ruche, Karine Lavandier, Hakim Amara, Yannick Bejot, Brivael Lemogne, Frédéric Ricolfi, Laura Baptiste, Pierre Thouant, Gaulthier Duloquin, Pierre‐Olivier Comby, Christelle Blanc‐Labarre, Simon Amaral, Angélique Bernard, Adrien Chavent, Alan Rhamani, Corinne Chevalier, Guillaume Charbonnier, Louise Bonnet, Nicolas Raybaud, Benjamin Bouamra, Thierry Moulin, Alessandra Biondi, Fernando Pico, Benjamin Dano, Carmen Patcas, Dhouha Chaari, Daniela Stanciu, Duc Long Duong, Intissar Hmida, Marie‐Laure Chadenat, Laurent Suissa, Emilie Doche, Jean‐François Hak, Anthony Reyre, Xavier Carle, Nadia Laksiri, Ophélie Osman, Roxane Peres, Emmanuelle Robinet‐Borgmano, Cécile Dulau, Basile Kerleroux, Caroline Rey, Hervé Brunel, Philippe Dory‐Lautrec, Jean‐François Hak, Pierre Lehmann, Sivadji Vingadalassalom, Basile Kerleroux, Jérôme Berge, Federico Sacchetti, Fabrice Bing, Mathieu Bonnerot, Isabelle Berger, Nathalie Morel, Gilles Rodier, Wilfried Vadot and Barbara Casolla
Article first published online:
14 Mar 2024 | DOI: 10.1111/ene.16276

SHORT COMMUNICATION

Background and purpose

Patients who underwent red blood cell (RBC) transfusion from donors who later developed multiple spontaneous intracerebral hemorrhages (ICHs) have recently been identified to have increased risk of ICH themselves. This increased risk of ICH was hypothesized to be related to iatrogenic cerebral amyloid angiopathy (iCAA) transmission. Two cases are presented who had RBC transfusion as an infant and presented with CAA at a relatively young age decades later.

Method

Cases were identified by prospectively asking all patients at our CAA outpatient clinic (November 2023 to January 2024) about a medical history with RBC transfusion or history with a high likelihood for RBC transfusion (e.g., hemolytic disease, trauma with massive hemorrhage). Eligible patients were all diagnosed with CAA, CAA with concomitant hypertensive arteriopathy or iCAA, and without hereditary CAA.

Results

Between November 2023 and January 2024, 2/35 (6%, 95% confidence interval 2%–19%) outpatient clinic patients had a history of RBC transfusion and none had a high likelihood medical history. The cases presented at age 47 and 57 and had already developed severe CAA.

Conclusions

Red blood cell transfusion might be a possible mechanism for iCAA; however, further prospective data collection and experimental evidence concerning blood transmission of amyloid‐β are needed.

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Authors:
K. Kaushik, M. J. H. Wermer and E. S. van Etten
Article first published online:
18 Mar 2024 | DOI: 10.1111/ene.16277

SHORT COMMUNICATION

Background and purpose

An increasing number of cases of iatrogenic cerebral amyloid angiopathy (CAA) have now been reported worldwide. Proposed diagnostic criteria require a history of medical intervention with potential for amyloid‐β transmission, for example those using cadaveric dura mater or requiring instrumentation of the brain or spinal cord. Clinical presentation occurs after an appropriate latency (usually three or four decades); to date, most patients with iatrogenic CAA have had ‘early‐onset’ disease (compared to sporadic, age‐related, CAA), as a consequence of childhood procedures.

Results

We describe five cases of possible iatrogenic CAA in adults presenting in later life (aged 65 years and older); all had prior neurosurgical interventions and presented after a latency suggestive of iatrogenic disease (range 30–39 years). Use of cadaveric dura mater was confirmed in one case, and highly likely in the remainder.

Conclusion

The presentation of iatrogenic CAA in older adults widens the known potential spectrum of this disease and highlights the difficulties of making the diagnosis in this age group, and particularly in differentiating iatrogenic from sporadic CAA. Increased vigilance for cases presenting at an older age is essential for furthering our understanding of the clinical phenotype and broader implications of iatrogenic CAA.

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Authors:
Larysa Panteleienko, Dermot Mallon, Rupert Oliver, Ahmed Toosy, Yuki Hoshino, Aya Murakami, Kanishk Kaushik, Marieke J. H. Wermer, Hideo Hara, Yusuke Yakushiji, Gargi Banerjee and David J. Werring
Article first published online:
21 Mar 2024 | DOI: 10.1111/ene.16278

EDITORIAL

Women with epilepsy in Rwanda—a real real‐world study

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Authors:
Bernhard J. Steinhoff
Article first published online:
03 Apr 2024 | DOI: 10.1111/ene.16295

EDITORIAL

Acquired cerebral amyloid angiopathy: more questions than answers

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Authors:
Simon Fandler‐Höfler and Benedetta Storti
Article first published online:
10 Apr 2024 | DOI: 10.1111/ene.16299