Revue neurologique最新文献

{"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":"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":null,"pages":null},"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}

{"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":null,"pages":null},"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":"Stroke-like manifestations of angioedema: A case report and the identification of a novel mutation","authors":"J.-D. Karam ,&nbsp;X. Boulu ,&nbsp;G. Hardy ,&nbsp;Y. Buron","doi":"10.1016/j.neurol.2023.10.006","DOIUrl":"10.1016/j.neurol.2023.10.006","url":null,"abstract":"","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138478490","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":"Prevalence of multiple sclerosis in France in 2021: Data from the French health insurance database","authors":"C. Pierret,&nbsp;M. Mainguy,&nbsp;E. Leray","doi":"10.1016/j.neurol.2023.12.007","DOIUrl":"10.1016/j.neurol.2023.12.007","url":null,"abstract":"<div><h3>Background</h3><p>France is among the countries with high prevalence of multiple sclerosis (MS). The most recent estimates are from 2012 and need to be updated because MS prevalence has increased worldwide.</p></div><div><h3>Objective</h3><p>To estimate MS prevalence in France on December 31, 2021 and to describe the characteristics of the French MS population using data from the French national health insurance database (SNDS).</p></div><div><h3>Material and methods</h3><p>Persons with MS (PwMS) were identified in the SNDS database (99% of national coverage) using an algorithm with three criteria: long-term disease status, hospitalizations, and MS-specific drug reimbursements. Crude and sex- and age-stratified prevalence rates were calculated with their 95% confidence intervals as well as the standardized prevalence stratified on the region of residence.</p></div><div><h3>Results</h3><p>In total, 134,062 PwMS were identified (71.8% of women, median age 53.0<!--> <!-->±<!--> <!-->14.8<!--> <!-->years) yielding a prevalence of 197.6 per 100,000 (95% CI [196.5–198.7]). Prevalence rates in women and men were respectively 274.9 (95% CI [273.2–276.6]) and 115.2 (95% CI [114.0–116.4]). In metropolitan France, the highest prevalence rates were observed in the northeastern regions (e.g.<!--> <!-->&gt;<!--> <!-->230 PwMS per 100,000 in Grand Est and Hauts-de-France), and the lowest rates in the southwestern regions (∼180 PwMS per 100,000 in Nouvelle-Aquitaine and Occitanie). Overall, 32.1% of PwMS had another long-term disease and 51.8% received at least one MS-specific drug in 2021.</p></div><div><h3>Conclusion</h3><p>MS prevalence in France has increased by ∼30% in the last 10<!--> <!-->years. This increase is probably linked to population ageing, longer survival of PwMS, and the long observation period. The part attributable to a possible increase in MS risk remains to be determined with incidence studies.</p></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139997250","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":"Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategies","authors":"E. Leitão,&nbsp;C. Schröder,&nbsp;C. Depienne","doi":"10.1016/j.neurol.2024.03.005","DOIUrl":"10.1016/j.neurol.2024.03.005","url":null,"abstract":"<div><p>Tandem repeats are a common, highly polymorphic class of variation in human genomes. Their expansion beyond a pathogenic threshold is a process that contributes to a wide range of neurological and neuromuscular genetic disorders, of which over 60 have been identified to date. The last few years have seen a resurgence in repeat expansion discovery propelled by technological advancements, enabling the identification of over 20 novel repeat expansion disorders. These expansions can occur in coding or non-coding regions of genes, resulting in a range of pathogenic mechanisms. In this article, we review strategies, tools and methods that can be used for efficient detection and characterization of known repeat expansions and identification of new expansion disorders. Features that can be used to prioritize repeat expansions include anticipation, which is characterized by increased severity or earlier onset of symptoms across generations, and founder effects, which contribute to higher prevalence rates in certain populations. Classical technologies such as Southern blotting, repeat-primed polymerase chain reaction (PCR) and long-range PCR can still be used to detect known repeat expansions, although they usually have significant limitations linked to the absence of sequence context. Targeted sequencing of known expansions using either long-range PCR or CRISPR-Cas9 enrichment combined with long-read sequencing or adaptive nanopore sampling are usually better but more expensive alternatives. The development of new bioinformatics tools applied to short-read genome data can now be used to detect repeat expansions either in a targeted manner or at the genome-wide level. In addition, technological advances, particularly long-read technologies such as optical genome mapping (Bionano Genomics), Oxford Nanopore Technologies (ONT) and Pacific Biosciences (PacBio) HiFi sequencing, offer promising avenues for the detection of repeat expansions. Despite challenges in specific DNA extraction requirements, computation resources needed and data interpretation, these technologies have an immense potential to advance our understanding of repeat expansion disorders and improve diagnostic accuracy.</p></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0035378724004831/pdfft?md5=3550137ac13aaab19d4a5d9934856731&pid=1-s2.0-S0035378724004831-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140595743","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":"Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia","authors":"G. Clément ,&nbsp;S. Puisieux ,&nbsp;D. Pellerin ,&nbsp;B. Brais ,&nbsp;C. Bonnet ,&nbsp;M. Renaud","doi":"10.1016/j.neurol.2024.03.007","DOIUrl":"10.1016/j.neurol.2024.03.007","url":null,"abstract":"<div><p>Genetic cerebellar ataxias are still a diagnostic challenge, and yet not all of them have been identified. Very recently, in early 2023, a new cause of late-onset cerebellar ataxia (LOCA) was identified, spinocerebellar ataxia 27B (SCA27B). This is an autosomal dominant ataxia due to a GAA expansion in intron 1 of the <em>FGF14</em> gene. Thanks to the many studies carried out since its discovery, it is now possible to define the clinical phenotype, its particularities, and the progression of SCA27B. It has also been established that it is one of the most frequent causes of LOCA. The core phenotype of the disease consists of slowly progressive late-onset ataxia with cerebellar syndrome, oculomotor disorders including downbeat nystagmus, and episodic symptoms such as diplopia. Therapeutic approaches have been proposed, including acetazolamide, and 4-aminopyridine, the latter with a better benefit/tolerance profile.</p></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0035378724004867/pdfft?md5=dfa349b1f6446cc5528435def1792603&pid=1-s2.0-S0035378724004867-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140756020","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}