Revue neurologique最新文献

{"title":"Neurological disorders related to recreational nitrous oxide abuse: Two sides of the same coin","authors":"R. Delsanti , C. Arnaud , G. Defer","doi":"10.1016/j.neurol.2023.10.007","DOIUrl":"10.1016/j.neurol.2023.10.007","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 5","pages":"Pages 467-469"},"PeriodicalIF":3.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138488346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vanishing white matter in multiple mitochondrial dysfunction syndrome-2 due to compound heterozygosity for novel BOLA3 variants","authors":"J. Finsterer","doi":"10.1016/j.neurol.2023.08.016","DOIUrl":"10.1016/j.neurol.2023.08.016","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 5","pages":"Pages 461-463"},"PeriodicalIF":3.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136093216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"RFC1: Motifs and phenotypes","authors":"V. Delforge ,&nbsp;C. Tard ,&nbsp;J.-B. Davion ,&nbsp;K. Dujardin ,&nbsp;A. Wissocq ,&nbsp;C.-M. Dhaenens ,&nbsp;E. Mutez ,&nbsp;V. Huin","doi":"10.1016/j.neurol.2024.03.006","DOIUrl":"10.1016/j.neurol.2024.03.006","url":null,"abstract":"<div><p>Biallelic intronic expansions (AAGGG)_exp in intron 2 of the <em>RFC1</em> gene have been shown to be a common cause of late-onset ataxia. Since their first description, the phenotypes, neurological damage, and pathogenic variants associated with the <em>RFC1</em> gene have been frequently updated. Here, we review the various motifs, genetic variants, and phenotypes associated with the <em>RFC1</em> gene. We searched PubMed for scientific articles published between March 1st, 2019, and January 15th, 2024. The motifs and phenotypes associated with the <em>RFC1</em> gene are highly heterogeneous, making molecular diagnosis and clinical screening and investigation challenging. In this review we will provide clues to give a better understanding of <em>RFC1</em> disease. We briefly discuss new methods for molecular diagnosis, the origin of cough in <em>RFC1</em> disease, and research perspectives.</p></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 5","pages":"Pages 393-409"},"PeriodicalIF":3.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0035378724004843/pdfft?md5=d53d1da228d3727a03bd77a0b5f73c98&pid=1-s2.0-S0035378724004843-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140781225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epidemiology of myasthenia gravis in France: Incidence, prevalence, and comorbidities based on national healthcare insurance claims data","authors":"S. Keovilayhong ,&nbsp;A. Mulliez ,&nbsp;L. Feral ,&nbsp;C. Chenaf ,&nbsp;P. Clavelou ,&nbsp;X. Moisset ,&nbsp;F. Taithe ,&nbsp;L. Poncet Megemont","doi":"10.1016/j.neurol.2024.02.392","DOIUrl":"10.1016/j.neurol.2024.02.392","url":null,"abstract":"<div><h3>Background</h3><p>The European literature has reported high variability in the incidence and prevalence rates of myasthenia gravis (MG), but no specific epidemiological data for France have been published. This study aimed to assess the incidence and prevalence rates of myasthenia gravis in France based on data extracted from the French National Health Insurance Claims Database (the SNIIRAM database).</p></div><div><h3>Methods</h3><p>We conducted a retrospective repeated cross-sectional population study from 2008 to 2018 using a representative sample of the French population (Échantillon généraliste des bénéficiaires) covered by health insurance. We calculated the incidence, prevalence, and sex ratio of MG and screened for comorbidities associated with MG (standardized to the general population).</p></div><div><h3>Results</h3><p>In total, 331 MG patients were identified between 2008 and 2018. The average incidence of MG in France was 50 per million person-years, while the mean prevalence was 465 per million people. The female-to-male ratio was 1.33. The Incidence of MG gradually increased from 40<!--> <!-->years of age for women and 60 for men. Thymoma was present for 5.1% of MG patients and a thymectomy was performed for 4.7%. Thyroid disease was the most prevalent autoimmune comorbidity, affecting approximately 8.5% of cases. MG patients had an increased cancer risk, with a standardized rate ratio of 2.38 (95% CI: 1.64–3.46).</p></div><div><h3>Conclusion</h3><p>The incidence and prevalence rates of MG are significantly higher than those previously reported in the literature and the incidence increases with age. The excess risk of cancer raises concerns for MG patients, in particular, concerning the management of immunosuppressive drugs.</p></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 5","pages":"Pages 451-458"},"PeriodicalIF":3.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0035378724004855/pdfft?md5=6d8c801a7c2ca413be928a199525667d&pid=1-s2.0-S0035378724004855-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140757625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A developmental component to Huntington's disease","authors":"L. Ratié ,&nbsp;S. Humbert","doi":"10.1016/j.neurol.2024.04.001","DOIUrl":"10.1016/j.neurol.2024.04.001","url":null,"abstract":"<div><p>Huntington's disease is a dominantly inherited disorder characterized by the dysfunction and death of cortical and striatal neurons. Striatal degeneration in Huntington's disease is due, at least in part, to defective cortical signalling to the striatum. Although Huntington's disease generally manifests at the adult stage, mouse and neuroimaging studies of presymptomatic mutation carriers suggest that it may affect neurodevelopment. In support of this notion, the development of the cortex is altered in mice with Huntington's disease and the foetuses of human Huntington's disease gene carriers. We will discuss these studies and the contribution of abnormal brain development to the later appearance of the disease.</p></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 5","pages":"Pages 357-362"},"PeriodicalIF":3.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0035378724004879/pdfft?md5=f82e835228db5614a438cf48462e6e38&pid=1-s2.0-S0035378724004879-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140781514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gene editing as a therapeutic strategy for spinocerebellar ataxia type-3","authors":"N. Déglon","doi":"10.1016/j.neurol.2024.03.003","DOIUrl":"10.1016/j.neurol.2024.03.003","url":null,"abstract":"<div><p>Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is a neurodegenerative disease caused by expanded polyglutamine repeats in exon 10 of the ataxin-3 gene, <em>ATXN3</em>. The accumulation of mutant ATXN3 protein leads to severe clinical manifestations and premature death. Clinically, SCA3 pathology is characterized by progressive ataxia leading to motor incoordination that may affect balance, gait and speech, and neuropathologically by a progressive degeneration of the spinal cord and cerebellum, as well as the cerebral cortex and basal ganglia. Although SCA3 is a rare disease, it is the most common autosomal dominant spinocerebellar ataxia worldwide. Its geographical distribution varies worldwide, with peak prevalence in certain regions of Brazil, Portugal and China. In 1994, the identification of the polyglutamine expansion in the <em>ATXN3</em> gene made it possible not only to diagnose this pathology but also to dissect the mechanisms leading to cellular degeneration. As a monogenic disease for which only symptomatic treatment is available, the <em>ATXN3</em> gene represents an attractive therapeutic target for gene editing strategies.</p></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 5","pages":"Pages 378-382"},"PeriodicalIF":3.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0035378724004788/pdfft?md5=bbc93dc76ab9047cc244e40b04d344fd&pid=1-s2.0-S0035378724004788-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140784240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role?","authors":"C. Sellier ,&nbsp;P. Corcia ,&nbsp;P. Vourc’h ,&nbsp;L. Dupuis","doi":"10.1016/j.neurol.2024.03.008","DOIUrl":"10.1016/j.neurol.2024.03.008","url":null,"abstract":"<div><p>The major gene underlying monogenic forms of amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD) is <em>C9ORF72.</em> The causative mutation in <em>C9ORF72</em> is an abnormal hexanucleotide (G4C2) repeat expansion (HRE) located in the first intron of the gene. The aim of this review is to propose a comprehensive update on recent developments on clinical, biological and therapeutics aspects related to <em>C9ORF72</em> in order to highlight the current understanding of genotype-phenotype correlations, and also on biological machinery leading to neuronal death. We will particularly focus on the broad phenotypic presentation of <em>C9ORF72-</em>related diseases, that goes well beyond the classical phenotypes observed in ALS and FTD patients. Last, we will comment the possible therapeutical hopes for patients carrying a <em>C9ORF72</em> HRE.</p></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 5","pages":"Pages 417-428"},"PeriodicalIF":3.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0035378724004880/pdfft?md5=bc5c63e125f3158d206fb1d2565c56df&pid=1-s2.0-S0035378724004880-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140787052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lessons from genetic studies in Alzheimer disease","authors":"G. Nicolas","doi":"10.1016/j.neurol.2023.12.006","DOIUrl":"10.1016/j.neurol.2023.12.006","url":null,"abstract":"<div><p>Research on Alzheimer disease (AD) genetics has provided critical advances to the knowledge of AD pathophysiological mechanisms. The etiology of AD can be divided into monogenic (autosomal dominant inheritance) and complex (multifactorial determinism). In monogenic AD, recent advances mainly concern mutation-associated mechanisms, presymptomatic clinical studies, and the search for modifiers of ages of onset that are still ongoing. In complex AD, genetic factors can be further categorized into three classes: (<em>i</em>) the <em>APOE</em>-ɛ4 and ɛ2 common alleles that represent a category by themselves as they are both common and with a strong impact on AD risk; (<em>ii</em>) common variants with a modest effect, identified in genome-wide association studies (GWAS); and (<em>iii</em>) rare variants with a moderate-to-strong effect, identified in case-control sequencing studies. Regarding <em>APOE</em>, odds ratios, available in multiple ethnicities, can now be converted into penetrance curves, although such curves remain to be performed in diverse ethnicities. In addition, advances in the understanding of mechanisms have been recently reported and rare <em>APOE</em> variants add to the complexity. In the GWAS category, novel loci have been discovered thanks to larger studies, doubling the number of hits as compared to the previous reference meta-analysis. However, such modest risk factors cannot be used in the clinic, neither individually, nor in genetic risk scores. In the category of rare variants, two novel genes, <em>ABCA1</em> and <em>ATP8B4</em> now add to the three main ones, <em>TREM2</em>, <em>SORL1</em>, and <em>ABCA7</em>. The study of such rare variants suggests oligogenic inheritance in some families, as also suggested by digenic penetrance curves for <em>SORL1</em> loss-of-function variants with <em>APOE</em>-ɛ4. Cumulate frequencies of definite (so-called) rare risk factors are 2.3% to 3.6% (depending on thresholds on odds ratios) in control databases and many more remain to be classified and identified, showing how important these risk factors may be as part of the complex determinism of AD. A better understanding of these rare risk factors and their combined effects on each other, with common variants, and with environmental factors, should allow for a prediction of AD risk and, eventually, preventive medicine. Taken together, most genetic determinants of AD, in monogenic and in complex forms, point toward the aggregation of Aβ as a pivotal triggering factor, such that targeting it may be efficient as prevention in at-risk individuals. The role of neuroinflammation, microglia, and Tau pathology modulation are important sources of research for disease modification.</p></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 5","pages":"Pages 368-377"},"PeriodicalIF":3.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140013204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Directional deep brain stimulation is useful to correct the misplacement of intracerebral electrode after reimplantation","authors":"G. Costentin ,&nbsp;S. Derrey ,&nbsp;D. Maltête","doi":"10.1016/j.neurol.2023.10.004","DOIUrl":"10.1016/j.neurol.2023.10.004","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 5","pages":"Pages 463-465"},"PeriodicalIF":3.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71485555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epileptic encephalopathies and progressive neurodegeneration","authors":"R. Guerrini ,&nbsp;V. Conti","doi":"10.1016/j.neurol.2024.03.004","DOIUrl":"10.1016/j.neurol.2024.03.004","url":null,"abstract":"<div><p>Developmental encephalopathies (DE), epileptic encephalopathies (EE) and developmental and epileptic encephalopathies (DEE) are overlapping neurodevelopmental disorders characterized by early-onset, often severe epileptic seizures, developmental delay, or regression and have multiple etiologies. Classical nosology in child neurology distinguished progressive and nonprogressive conditions. A progressive course with global cognitive worsening in DEE is usually attributed to severe seizures and electroencephalographic abnormalities whose deleterious effects interfere with developmental processes both in an apparently healthy brain and in an anatomically compromised one. Next generation sequencing and functional studies have helped identifying and characterizing clinical conditions, each with a broad spectrum of clinical and anatomic severity corresponding to a variable level of neurodegeneration, such that both a rapidly progressive course and considerably milder phenotypes with no obvious deterioration can be configured with mutations in the same gene. In this mini review, we present examples of genetic DEE that draw connections between neurodevelopmental and neurodegenerative disorders.</p></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 5","pages":"Pages 363-367"},"PeriodicalIF":3.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0035378724004818/pdfft?md5=360fb8d15573f93532df4fc4f24f546e&pid=1-s2.0-S0035378724004818-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140770906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}