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Revue Neurologique[JOURNAL]

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Clinical presentation and natural history of RAVINE leukoencephalopathy in Reunion Island.

Renouil M, Grigorashvili-Coin II, Jacquemont ML … +6 more , Gelot A, Trommsdorff V, Pervillé A, Darcel F, Bintner M, Choumert A

Rev Neurol (Paris) · 2025 Oct · PMID 41015522 · Publisher ↗

INTRODUCTION: RAVINE leukoencephalopathy (RLE) is a hereditary autosomal recessive disease characterized by typical clinical and radiological signs that has so far been observed only in patients of Reunionese origin. The... INTRODUCTION: RAVINE leukoencephalopathy (RLE) is a hereditary autosomal recessive disease characterized by typical clinical and radiological signs that has so far been observed only in patients of Reunionese origin. The term RAVINE is a French acronym for the main clinical features of the disease: Réunion, Anorexie, Vomissements Incoercibles, signes NEurologiques (Reunion, Anorexia, Intractable Vomiting, NEurological signs). Patients with RLE carry the IVS1-1778A>G mutation of the SLC7A2 gene in the homozygous state. Here we present the first complete clinical description and natural history of RLE. MATERIAL AND METHODS: The medical records of all patients born to Reunionese parents and presenting with suspected RLE were reviewed. The diagnosis of RLE was confirmed by detection of the homozygous mutation IVS1-1178A>G of the SLC7A2 gene. The clinical and paraclinical data of patients with genetically confirmed RLE were retrospectively analyzed to determine the clinical presentation and natural history of the disease. RESULTS: Our retrospective analysis of the clinical and paraclinical data of 40 patients with genetically confirmed RLE distinguished 3 types of the disease based on the evolution of symptoms. Symptoms were classified into 4 stages of development: stage A, or digestive-like stage, characterized by digestive symptoms and to a lesser extent by neurological symptoms; stage B, or clinically latent stage; stage C, or exacerbation stage, marked by attacks of neurological symptoms; and stage D, or decline stage, characterized by loss of walking ability and progression towards death. Patients with type I RLE (37.5%), or monophasic RLE, experience only the severe stage A. Death occurs before the age of 28months in a very narrow time window (23.0±2.2months). Patients with type II RLE (16.7%), or biphasic RLE, move directly from stage A to stage D. Patients with type III RLE (45.8%), or multiphasic RLE, experience all 4 stages with varying degrees of symptom severity. This is the most frequent type of RLE. The joint occurrence of central apnea and vocal cord paralysis during stage A is indicative of unfavorable prognosis. Corticosteroid therapy seems to be effective during stage A and in some cases during stage C. DISCUSSION: This retrospective study provides the first complete clinical description and natural history of RLE. Three types of the disease were distinguished based on the evolution of symptoms. The diagnosis of RLE can be established outside of Reunion Island as many Reunionese couples have emigrated to other parts of the world.

Investigating neuroanatomical correlates of neuropathic pain in multiple sclerosis: A pilot comparative study using advanced MRI techniques.

Fillebeen G, Ocampo-Pineda M, Ruberte E … +6 more , Melie-Garcia L, Kuhle J, Kurz FT, Lovblad KO, Lalive PH, Lascano AM

Rev Neurol (Paris) · 2025 Oct · PMID 40858406 · Publisher ↗

BACKGROUND: Previous studies exploring the anatomical correlates of pain in multiple sclerosis (MS) have relied on structural magnetic resonance imaging (MRI) and descriptive methodologies. OBJECTIVE: To establish radiol... BACKGROUND: Previous studies exploring the anatomical correlates of pain in multiple sclerosis (MS) have relied on structural magnetic resonance imaging (MRI) and descriptive methodologies. OBJECTIVE: To establish radiological correlates of neuropathic pain in MS patients through the objective segmentation and analysis of brain MRI. METHODS: This exploratory pilot study included three distinct groups: MS patients with neuropathic pain (n=8), MS patients without pain (n=11), and individuals with small fiber neuropathy (SFN, n=6). Neuropathic pain was confirmed using laser-evoked potentials (LEPs), ensuring an objective assessment of pain function. All participants underwent brain MRI, with MS patients additionally undergoing spinal MRI. Brain region segmentation was conducted using two advanced automated tools: SAMSEG (Sequence Adaptive Multimodal SEGmentation) and SynthSEG. Pain-related brain regions, including the thalamus, brainstem, basal ganglia, prefrontal cortex, and somatosensory cortex, were analyzed and compared amongst the three groups. RESULTS: The volume of the right pallidum was significantly reduced in MS patients with pain compared to those without pain, as measured by SynthSeg but not with SAMSEG. Individual analysis of regions of interest showed significant results of diffusion tensor imaging analysis in the external capsule, internal capsule, posterior thalamic radiation, and superior longitudinal fasciculus. Quantitative analysis of spinal cord lesions revealed no significant differences between the groups. CONCLUSIONS: These findings highlight a potential of advanced neuroimaging techniques to uncover brain-based correlates of neuropathic pain in MS, though further studies with larger sample sizes are warranted for validation.

Transthyretin variant cerebral amyloid angiopathy fulfilling the modified Boston criteria: Retrospective data from the Bicêtre hospital cohort.

Brunet de Courssou JB, Gorza L, Babin M … +5 more , Nasser G, Ancelet C, Labeyrie C, Denier C, Cauquil C

Rev Neurol (Paris) · 2025 Oct · PMID 40816926 · Publisher ↗

BACKGROUND: Hereditary transthyretin amyloidosis (ATTRv) is the most common hereditary amyloidosis, affecting mainly the peripheral nervous system and the heart. Central nervous system (CNS) involvement is regarded as ra... BACKGROUND: Hereditary transthyretin amyloidosis (ATTRv) is the most common hereditary amyloidosis, affecting mainly the peripheral nervous system and the heart. Central nervous system (CNS) involvement is regarded as rare, apart in some TTR variants, although leptomeningeal amyloid deposit had been described in the frequent Val30Met variant. Cerebral amyloid angiopathy (CAA) is a neurovascular disease characterized by amyloid deposits in brain vasculature, leading to ischemic and hemorrhagic events. The main cause is sporadic CAA with β-amyloid deposits but hereditary causes are possible. METHODS: We analyzed a cohort of ATTRv symptomatic patients treated at Bicêtre university hospital who underwent brain magnetic resonance imaging (MRI) regardless of indication. RESULTS: Twenty out of 64 ATTRv patients (31%) fulfilled radiological criteria of possible or probable CAA (suspected CAA) according to the modified Boston criteria with an unusually high 77% (10/13) frequency of leptomeningeal enhancement. Clinically, suspected CAA patients tended to have more focal central neurological symptoms, seizures and memory complaints than ATTRv patients without those MRI features. CONCLUSION: ATTRv-related CAA should be considered in case of CAA with suggestive systemic features or familial history, as specific treatments and genetic counseling now exist for ATTRv. Conversely, CNS symptoms and brain MRI abnormalities should be sought in ATTRv patients.

Quality of life in patients with spontaneous intracranial hypotension: A systematic review and meta-analysis.

Ognard J, El Hajj G, Ghozy S … +5 more , Cutsforth-Gregory JK, Madhavan AA, Kadirvel R, Kallmes DF, Brinjikji W

Rev Neurol (Paris) · 2025 Oct · PMID 40813174 · Publisher ↗

BACKGROUND: Not only are diagnosis and management of spontaneous intracranial hypotension (SIH) challenging due to heterogeneous symptoms and limited treatment effectiveness, but SIH's impact on health-related quality of... BACKGROUND: Not only are diagnosis and management of spontaneous intracranial hypotension (SIH) challenging due to heterogeneous symptoms and limited treatment effectiveness, but SIH's impact on health-related quality of life (HRQoL) is under-documented. OBJECTIVES: In this systematic review, we aim to evaluate the assessment of QoL in SIH patients, identify impacted QoL domains, and explore treatment-related changes in QoL with a meta-analysis. METHODS: Following PRISMA recommendations, we conducted a systematic literature search using a comprehensive set of keywords related to QoL and SIH. Databases were searched from the inception to July 2025. Studies were included if they provided reports on the quality of life for SIH patients. A meta-analysis using mean difference (MD) of baseline and after-treatment QoL scores was conducted. The risk of bias was assessed using the Newcastle-Ottawa scale. RESULTS: Of 1435 initial publications, 20 studies met the inclusion criteria, representing a total of 1106 patients with SIH. EQ-5D-5L and HIT-6 were the most frequently used tools, with pooled results showing significant improvement post-treatment in perceived health (Visual analog scale score improved from 38.9 to 72.2; MD of 42.4 [95% CI 26.2-58.7]) and headache impact (HIT-6 scores improved from 66.1 to 49.3; MD of 20.1 [95% CI: 14.7-25.6]). Despite treatment, studies reported moderate to severe physical, mental, and social limitations. DISCUSSION: The reporting of QoL is inconsistent and the tools used to assess QoL in SIH patients are heterogenous. While treatment provides help, some symptoms persist and highlight the need for specific QoL assessment, with tools tailored to SIH.

Amyloid PET imaging in France: One-year experience and perspectives.

Verger A, Payoux P, Heyer S … +10 more , Habert MO, Flaus A, Ribeiro M, De Leiris N, Pariente J, Wallon D, Ceccaldi M, Bombois S, Guedj E, Groupe de travail « neurologie » de la Société française de médecine nucléaire (GT neurologie SFMN)

Rev Neurol (Paris) · 2025 Oct · PMID 40813173 · Publisher ↗

Abstract loading — click title to view on PubMed.

Climate-related challenges to brain health: A European perspective review.

Reis J, Buguet A, Tulek Z … +6 more , Landtblom AM, Radomski MW, Öztürk Ş, Pugliatti M, Kallweit U, Spencer PS

Rev Neurol (Paris) · 2025 Oct · PMID 40813172 · Publisher ↗

In this paper, we provide a brief overview on the assessment of the numerous effects of climate change on human health, with particular emphasis on brain health. After reviewing the epidemiological data concerning neuro-... In this paper, we provide a brief overview on the assessment of the numerous effects of climate change on human health, with particular emphasis on brain health. After reviewing the epidemiological data concerning neuro-psychiatric mortality and morbidity, we will examine the known effects of global warming in a European context. We will consider respectively, neurological diseases (epilepsy, migraine, stroke, sleep, neurodegenerative and neuroinfectious disorders), neurological involvement of climate-change induced health conditions, neuro-psychological aspects (post-traumatic stress and sleep disorders, eco-anxiety) and emerging risks for the brain (toxins and infections). We suggest some underlying mechanisms impacting the brain health. Given the paucity of available data, we call for increased research attention to the adverse effects of climate change. This perspective is intended to support a higher degree of preparedness, the development of improved preventive measures, and the promotion of targeted education for health professionals.

Training in movement disorders during neurology residency in France: A national survey on educational gaps and future perspectives.

Aubignat M, Potel S, Carey G … +8 more , Schneider V, Mira V, Ollivier T, Grimaldi S, Wirth T, Roze E, Desjardins C, behalf of the MAJE study group

Rev Neurol (Paris) · 2025 Oct · PMID 40813171 · Publisher ↗

Movement disorders (MDs) subspecialty is a key discipline in neurology, requiring dedicated expertise and training for accurate diagnosis and management. However, structured data on neurology residency training in this f... Movement disorders (MDs) subspecialty is a key discipline in neurology, requiring dedicated expertise and training for accurate diagnosis and management. However, structured data on neurology residency training in this field in France are lacking. This study aims to evaluate the accessibility, quality, and consistency of MDs education among French neurology residents and to identify areas for improvement. A national online survey was conducted from August to November 2024 among neurology residents across France. The questionnaire assessed theoretical and practical exposure to MDs, procedural training, self-reported confidence in managing MDs, and residents' expectations regarding training. Responses were analyzed descriptively, with comparisons across residency years and hospital types. Data were obtained from 151 neurology residents at 24 university hospitals. MDs training was highly heterogeneous: 47.3% reported receiving ≤5h of theoretical MDs education, while only 2.7% exceeded 20h. Practical exposure was limited, with 25.2% of residents having attended MD consultations under supervision, and only 4% having performed botulinum toxin injections under supervision. Confidence in managing MDs was generally low, particularly for dystonia (60.9% felt unprepared) and Tourette syndrome/tics (79.5% felt unprepared). Residents identified major gaps in structured education, procedural training, and access to mentorship. They advocated for a standardized MDs curriculum, increased supervised practical training, and the development of innovative educational tools. In conclusion, MD training during neurology residency in France is inconsistent, with significant gaps in both theoretical and practical exposure. Standardizing MD education, expanding supervised procedural training, and fostering mentorship programs are essential steps to improve resident skills.

Utility of tissue-based assays to elucidate an autoantibody-negative paraneoplastic syndrome: Lessons from a case report.

Cogan G, Reguigne D, Do LD … +3 more , Picard G, Mongin M, Degos B

Rev Neurol (Paris) · 2025 Oct · PMID 40813170 · Publisher ↗

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Factors predicting seizure control and delivery outcomes in women with epilepsy with planned and unplanned pregnancy.

Melikova S, Mammadbayli A, Guekht A

Rev Neurol (Paris) · 2025 Oct · PMID 40783352 · Publisher ↗

OBJECTIVE: To determine and ascertain factors influencing seizure control and maternal and neonatal outcomes in women with epilepsy (WWE) with planned versus unplanned pregnancies. METHODS: One hundred twelve pregnant WW... OBJECTIVE: To determine and ascertain factors influencing seizure control and maternal and neonatal outcomes in women with epilepsy (WWE) with planned versus unplanned pregnancies. METHODS: One hundred twelve pregnant WWE were prospectively evaluated for over an eight-year period. Patients were subsequently evaluated at 3, 6, and 12 months after delivery and then were followed up by a neurologist at least three years after delivery. RESULTS: The proportion of the patients with increased seizure frequency was higher in focal epilepsy versus generalized epilepsy (P<0.05). The occurrence of seizures during pregnancy was associated with poor seizure control one year prior to the pregnancy and nonadherence to treatment (P<0.0001). Structural brain abnormalities were associated with a higher risk of seizures during pregnancy (P=0.03). Women with seizures during pregnancy (P=0.0069) and with non-adherence to antiseizure medication (ASM) treatment had a higher rate of cesarean section (P=0.0069 and P<0.05, respectively). The rates of adverse delivery outcomes were not higher in women with planned pregnancies compared to women with unplanned pregnancies. However, offspring of mothers with unplanned pregnancies and nonadherence to treatment were at higher risk of an Apgar score at 5minutes≤7 compared with infants of planned pregnancies (P=0.02 and P=0.0001, respectively). CONCLUSION: Seizure control prior to pregnancy, epilepsy type, adherence to ASM therapy, and pregnancy planning are potential factors influencing both seizure control and delivery outcomes in WWE. Our findings imply that systematic preconception counseling is crucial to preventing seizure deterioration in pregnancy and reducing the maternal and fetal complications.

Presymptomatic multiple sclerosis: Insights from the Radiologically Isolated Syndrome.

Lebrun-Frenay C, Cohen M, Okuda DT

Rev Neurol (Paris) · 2025 Nov · PMID 40781043 · Publisher ↗

Radiologically isolated syndrome (RIS) represents the initial phase of multiple sclerosis (MS) and is identified incidentally in asymptomatic individuals who display typical brain or spinal cord lesions indicative of aut... Radiologically isolated syndrome (RIS) represents the initial phase of multiple sclerosis (MS) and is identified incidentally in asymptomatic individuals who display typical brain or spinal cord lesions indicative of autoimmune inflammatory demyelination. The 2023 RIS criteria enhance diagnostic precision against imaging mimics by requiring one T2-weighted hyperintense lesion in two of four specified locations (periventricular, juxtacortical/cortical, infratentorial, spinal cord) alongside at least two of the following: a spinal cord lesion, CSF-restricted oligoclonal bands (OCB), or a new T2/gadolinium-enhancing lesion on MRI at any point, defining dissemination in time (DIT). After confirming the diagnosis, established risk factors for transition to clinical MS need to be assessed. Key factors include a younger age, male sex, the presence of infratentorial, spinal cord, or gadolinium-enhancing lesions, and CSF-restricted OCBs or increased kappa-free light chains. Two randomized trials showed the efficacy of two oral disease-modifying therapies in delaying the first clinical event in RIS. However, as some individuals remain asymptomatic, it's crucial to identify suitable candidates to balance treatment benefits with potential risks. Reviewing each RIS case with an MS expert team is advisable for better care and monitoring. The updated 2024 McDonald criteria classify RIS patients with additional features, such as positive CSF and susceptibility MRI biomarkers, as having preclinical MS.

Discussing with our patient a presymptomatic adult-onset neurological disease.

Lebrun-Frenay C

Rev Neurol (Paris) · 2025 Nov · PMID 40781042 · Publisher ↗

Abstract loading — click title to view on PubMed.

Hyperoxemia and its impact on in-hospital mortality in intracerebral hemorrhage patients: A retrospective cohort study.

Tian C, Zhou H, Yuan M

Rev Neurol (Paris) · 2025 Oct · PMID 40774905 · Publisher ↗

INTRODUCTION: This study aims to explore the relationship between arterial partial pressure of oxygen (PaO) and in-hospital mortality in patients admitted for the first time with intracerebral hemorrhage, with emphasis o... INTRODUCTION: This study aims to explore the relationship between arterial partial pressure of oxygen (PaO) and in-hospital mortality in patients admitted for the first time with intracerebral hemorrhage, with emphasis on the effect of hyperoxia on mortality. METHODS: We screened the MIMIC IV database for 1985 patients with cerebral hemorrhage admitted for the first time between 2008 and 2019. Exclusions included cases with duplicate records, patients with tumors, aneurysms, traumatic cerebral hemorrhage, cerebral hemorrhage due to blood disorders, and cases missing PaO values - 828 patients for final analysis. Based on PaO levels within 24hours of admission, patients were divided into three groups: high (>150mmHg), medium (100-150mmHg), and low (<100mmHg). A logistic mixed-effects regression model was used to analyze the relationship between PaO and hospital mortality. RESULTS: The overall mortality rate during hospitalization was 37.1%. After adjusting for confounding factors, the mortality risk ratio (OR) of the low PaO group and high PaO group were 1.78 (95%CI: 1.04-3.03, P=0.034) and 2.09 (95%CI: 1.28-3.42, P=0.003), respectively. However, no significant associations were found between PaOlevels and 28-, 60-, or 90-day mortality. Subgroup analysis showed an interaction between in-hospital mortality and PaO level in patients with chronic lung disease (P=0.002). Sensitivity analysis showed that the relationship still existed after excluding extreme PaO values. CONCLUSIONS: Elevated arterial oxygen tension within the first 24hours of admission was independently associated with increased in-hospital mortality in patients with intracerebral hemorrhage.

Influence of age and sex on presymptomatic phases of neurodegenerative diseases: Focus on multiple sclerosis and Alzheimer's disease.

Zeydan B, Kantarci K

Rev Neurol (Paris) · 2025 Nov · PMID 40774904 · Full text

Neurodegenerative diseases such as multiple sclerosis (MS) and Alzheimer's dementia (AD) demonstrate an ever-evolving disease continuum. The presymptomatic phase of neurodegenerative diseases provides a window of opportu... Neurodegenerative diseases such as multiple sclerosis (MS) and Alzheimer's dementia (AD) demonstrate an ever-evolving disease continuum. The presymptomatic phase of neurodegenerative diseases provides a window of opportunity to detect disease-specific changes and abnormalities early on and potentially intervene right away, before clinical symptoms occur. Age and sex are key modifiers of the presymptomatic phase of neurodegenerative diseases. In presymptomatic MS, younger age and male sex are main risk factors for transition to symptomatic MS, whereas older age and male sex are important predictors of the direct transition from presmyptomatic MS to primary progressive MS. In cognitively unimpaired adults, age is the strongest risk factor for AD and the lifetime AD risk after>65 years is higher in women versus men. The prevalence and future disease severity of AD is further modified by factors such as apolipoprotein Eɛ4, ovarian hormones, and menopause in women. Biomarkers are instrumental in detecting and monitoring abnormalities and underlying disease mechanisms in vivo, that are already present in the presymptomatic phase. Evaluating the influence of age and sex on presymptomatic phase of neurodegenerative diseases, particularly through biomarkers, contributes to the enhanced patient selection for clinical trials, optimization and individualization of patient management and development of new therapeutics.

Homozygous DNAJB4 deletion revealing myopathy with acute respiratory failure.

Chitimus DM, Adam C, Cauquil C … +8 more , Keren B, Heming N, Amthor S, Annane D, Nicolas G, Laforêt P, Métay C, Lefeuvre C

Rev Neurol (Paris) · 2025 Oct · PMID 40769870 · Publisher ↗

Homozygous mutations in the DNAJB4 (NM_007034) gene impair HSP40 function, leading to early respiratory failure due to diaphragm involvement and rigid-spine-like characteristics. We describe the case of a 23-year-old mal... Homozygous mutations in the DNAJB4 (NM_007034) gene impair HSP40 function, leading to early respiratory failure due to diaphragm involvement and rigid-spine-like characteristics. We describe the case of a 23-year-old male patient who was admitted for acute respiratory failure and motor deficit of the distal upper limbs. Creatine kinase values were elevated (10x upper normal limit), while the pulmonary function tests showed restrictive respiratory syndrome (forced vital capacity at 20% of theoretical values). The deltoid muscle biopsy findings were consistent with myofibrillar myopathy. Genetic analysis by NGS panel sequencing identified a homozygous deletion c.(?_1)_(1014_?)del, p.? (HGVS nomenclature) of the entire DNAJB4 gene, confirmed by qPCR. Both healthy parents exhibited the variant at the heterozygous state. Our results demonstrate that homozygous c.(?1)(1014_?)del, p.? deletion in DNAJB4 leads to a hereditary myopathy, further underscoring the gene's crucial role in muscle maintenance and function.

Literature review: CAR T-cell therapy as a promising immunotherapeutic approach for medulloblastoma.

Eksteen C, Riedemann J, Johnson H … +1 more , Engelbrecht AM

Rev Neurol (Paris) · 2025 Oct · PMID 40764212 · Publisher ↗

Medulloblastoma (MB) accounts for approximately 20-25% of all childhood brain tumours and 63% of intracranial embryonic tumours, with an annual incidence of around 5 cases per million in the paediatric population. This h... Medulloblastoma (MB) accounts for approximately 20-25% of all childhood brain tumours and 63% of intracranial embryonic tumours, with an annual incidence of around 5 cases per million in the paediatric population. This high-grade neuroepithelial tumour of the posterior fossa can develop at any age during childhood, adolescence and even adulthood, often spreading via cerebrospinal fluid. While most MB cases are sporadic, they can be associated with genetic predisposition syndromes. Although these genetic mutations present potential therapeutic targets, the limited number of mutations and few existing therapies aimed at these neoantigens pose significant challenges. Despite aggressive multimodal treatment approaches, approximately 30% of patients ultimately succumb to MB, and survivors frequently face long-term side effects that severely impact their quality of life. MB harbours unique molecular factors, necessitating careful consideration of therapeutic targets such as the blood-brain barrier, tumour microenvironment, and the differing responses of cancer stem cells versus bulk tumour tissue. Conventional treatment typically involves maximal safe resection, risk-adapted chemotherapy, and/or radiation craniospinal irradiation. While there is general agreement on the benefits of chemotherapy for MB patients, adverse side effects remain prevalent, underscoring the need for alternative therapeutic strategies. Given the heterogeneous nature of MBs and the lack of salvage treatment, immunotherapy has emerged as a promising novel treatment avenue. This personalized approach aims to enhance specificity and potentially reduce side effects. Among these innovative methods, adoptive cell therapy, particularly chimeric antigen receptor T (CAR T) cell therapy, shows great promise. This review will explore the potential of CAR T-cell therapies in targeting MB, building on their successful application in other solid tumours.

Neurological damage from recreational nitrous oxide use: Two distinct electroclinical profiles in a retrospective cohort.

Boulin F, Bédat-Millet AL, Didier-Laurent A … +8 more , Louillet F, Quesney G, Hébant B, Sudrié-Arnaud B, Maltête D, Welter ML, Guyant-Maréchal L, Zourdani L

Rev Neurol (Paris) · 2025 Oct · PMID 40713448 · Publisher ↗

The recreational nitrous oxide (NO) use is increasingly recognized as a cause of serious neurological disorders, particularly among young individuals. This retrospective multicenter study aimed to describe the clinical,... The recreational nitrous oxide (NO) use is increasingly recognized as a cause of serious neurological disorders, particularly among young individuals. This retrospective multicenter study aimed to describe the clinical, biological, and electrophysiological features of 41 patients with neurological impairments linked to recreational NO use. Most patients presented myeloneuropathy and motor-dominant, length-dependent, axonal neuropathy involving the lower limbs. Notably, two distinct electroclinical patterns emerged from nerve conduction studies and electromyography: a predominant sensorimotor axonal neuropathy (78.4% of cases) and a pure motor neuropathy (13.5%), both primarily involving the lower limbs. Despite normal serum B12 levels in most cases, elevated homocysteine and methylmalonic acid levels confirmed a functional vitamin B12 deficiency. These findings highlight the characteristic electrophysiological profiles associated with recreational NO use and underscore the importance of early detection and targeted management to prevent long-term disability.

Evaluation of choroidal thickness changes in patients with migraine using optical coherence tomography.

Rekik M, Walha Y, Moalla KS … +4 more , Kammoun S, Mhiri C, Dammak M, Trigui A

Rev Neurol (Paris) · 2025 Sep · PMID 40713383 · Publisher ↗

INTRODUCTION: Optical coherence tomography (OCT) has enabled the study of ocular impairments associated with certain neurological pathologies, such as migraine. This common condition represents a risk factor for ocular i... INTRODUCTION: Optical coherence tomography (OCT) has enabled the study of ocular impairments associated with certain neurological pathologies, such as migraine. This common condition represents a risk factor for ocular ischemic complications. We investigated changes in choroidal thickness (CT) in migraine patients with and without aura (MWA and MWoA respectively) compared to healthy controls using OCT and identified factors influencing the occurrence of these anomalies in migraine. METHODS: This was a cross-sectional case-control study including migraine patients and control subjects. All patients and controls underwent a complete ophthalmological examination and CT measurements using a spectral domain-OCT device (DRI OCT Triton; Topcon Corp, Japan). The duration of migraine, the frequency and duration of migraine attacks, the migraine disability assessment (MIDAS) and migraine severity scale (MIGSEV) questionnaire scores were recorded. RESULTS: One hundred and twenty eyes from 60 patients (60 eyes in the MWoA group and 60 eyes in the MWA group) were included. The control group included 30 age- and gender-matched healthy participants (60 eyes). OCT revealed that CT was significantly reduced in MWoA and MWA groups compared with the control group and in the MWA group compared to MWoA group. The duration of migraine and attacks as well as the disease severity were correlated with CT. Multiregression analysis showed that disease severity was the main determinant of CT. CONCLUSION: Our study highlights the significant impact of both types of migraine on choroidal structure. OCT proves to be promising in understanding migraine pathophysiology and potentially serves as a valuable biomarker for diagnosis and monitoring.

Can a virtual reality tool detect minor executive functions impairment in patients with multiple sclerosis?

Delsanti R, Le Mercier E, Briant A … +4 more , Derache N, Arnaud C, Branger P, Defer G

Rev Neurol (Paris) · 2025 Sep · PMID 40707327 · Publisher ↗

INTRODUCTION: Traditional neuropsychological tests do not always identify executive disorders in patients with multiple sclerosis (MS), despite their complaints. Many studies suggest that virtual reality (VR) may be usef... INTRODUCTION: Traditional neuropsychological tests do not always identify executive disorders in patients with multiple sclerosis (MS), despite their complaints. Many studies suggest that virtual reality (VR) may be useful to evaluate cognitive functions as close as possible to patients' daily activities. We investigated the validity of a VR tool in the assessment of executive impairment in MS patients. METHODS: Thirty patients with relapsing-remitting multiple sclerosis (RRMS) and 30 matched healthy controls performed a shopping task using the Virtual Action Planning-Supermarket (VAP-S) which simulates a supermarket environment (main measures: total test duration, distance traveled, incorrect actions, number of stops, duration of stops and time to pay) with a familiarization phase followed by a test phase. In addition, neuropsychological tests assessing executive functions were proposed. Inter-group comparisons were conducted using adapted statistical tests and correlation analyses between the VAP-S and the traditional tests results were performed. RESULTS: No significant difference was observed between the two groups in traditional tests. However, during the VAP-S familiarization phase, RRMS patients performed worse than controls, showing differences in distance traveled (P=0.042), total test duration (P=0.021) and number of stops (P=0.034). In the VAP-S test phase, no difference was found. Correlations were observed between some of the VAP-S scores and traditional tests results in both groups. CONCLUSION: A VR tool appears to be more effective than traditional tests in detecting mild executive difficulties in MS patients. We noticed a learning effect during the test phase, suggesting that VR could support cognitive rehabilitation and improve daily living.

Zilucoplan as a fast-acting treatment for severe myasthenic exacerbation: A case series.

Fabry V, Acket B, Girardie P … +3 more , Espagno L, Cointault O, Cintas P

Rev Neurol (Paris) · 2025 Sep · PMID 40685269 · Publisher ↗

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Migraine management in France: Practices of general practitioners and neurologists.

Lucas C, Raclot V, Gugenheim M … +3 more , Lefebvre H, Braithwaite B, Ducros A

Rev Neurol (Paris) · 2025 Sep · PMID 40681456 · Publisher ↗

BACKGROUND: In 2024, despite updated French guidelines, migraine remains underdiagnosed and undertreated. We conducted a comprehensive survey to evaluate the management of migraine patients by French general practitioner... BACKGROUND: In 2024, despite updated French guidelines, migraine remains underdiagnosed and undertreated. We conducted a comprehensive survey to evaluate the management of migraine patients by French general practitioners (GPs) and neurologists, and to identify factors linked to low prescription rates of recommended treatments. METHODS: A total of 320 GPs and 215 neurologists practicing in France were analyzed after completing an online questionnaire (between June and October 2023) regarding their prescribing behaviors and influencing factors, whose potential associations were analyzed statistically. RESULTS: GPs most commonly prescribe triptans (71.6%) and non-steroidal anti-inflammatory drugs (NSAIDs, 66.6%) for acute migraine treatment, and propranolol (71.6%) as prophylaxis. Lower prescribing rates were associated with shorter practice duration, negative perceptions of risk-benefit and lack of recent migraine training. Conversely, recent migraine training significantly reduced low prescription rates of prophylactic treatments. Neurologists frequently prescribe triptans (93.5%) and NSAIDs (89.3%) for acute treatment, as well as propranolol (76.3%) and amitriptyline (61.4%) as prophylaxis. The prescription of newer treatments like calcitonin gene-related peptide monoclonal antibodies is limited, with only 7.0% of respondents frequently using them. CONCLUSION: While GPs and neurologists often use recommended acute treatments, prophylactic and newer therapies are less commonly prescribed, despite recently updated French guidelines on migraine management.
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