Current Opinion in Neurology最新文献_第10页

Small fiber neuropathy: expanding diagnosis with unsettled etiology. 小纤维神经病：病因不明的扩展诊断。

IF 4.4 2区医学

Current Opinion in Neurology Pub Date : 2025-10-01 Epub Date: 2025-08-20 DOI: 10.1097/WCO.0000000000001418

Grazia Devigili, Margherita Marchi, Giuseppe Lauria

{"title":"Small fiber neuropathy: expanding diagnosis with unsettled etiology.","authors":"Grazia Devigili, Margherita Marchi, Giuseppe Lauria","doi":"10.1097/WCO.0000000000001418","DOIUrl":"10.1097/WCO.0000000000001418","url":null,"abstract":"Purpose of review: Small fiber neuropathies (SFN) are a heterogeneous group of disorders affecting the thinly myelinated Aδ and unmyelinated C-fibers. The clinical picture is dominated by neuropathic pain, often accompanied by autonomic symptoms of variable severity. The underlying causes encompass metabolic conditions like diabetes mellitus, immuno-mediated disorders, infection, exposure to toxins, and gain-of-function variants in the genes encoding the Nav1.7, Nav1.8, and Nav1.9 sodium channel subunits, though the list of associated diseases continues to grow. Recently, increased attention has focused on immune-mediated forms, which led to the identification of potentially treatable subgroups. These discoveries have advanced our understanding of pathophysiological mechanisms.Recent findings: Recent studies have broadened the spectrum of underlying conditions associated with SFN, including immune-mediated forms and links to SARS-CoV-2 infection and vaccines. Studies on genetic variants linked to unique clinical presentations have also yielded new insights. Furthermore, emerging perspectives highlighted disorders involving small fiber pathology that lacks typical clinical features of neuropathic pain, challenging traditional diagnostic criteria.Summary: Deepening our understanding of the causes underlying SFN advances the identification of potential therapeutic targets. The clinical presentation of SFN can vary significantly and may not consistently correlate with specific underlying conditions. Therefore, a systematic investigation of possible causes through a structured diagnostic assessment is critical to unveil additional contributing factors.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"485-495"},"PeriodicalIF":4.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12419023/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144793688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Myofibrillar myopathy: towards a mechanism-based definition as a Z-disk-opathy. 肌原纤维肌病：迈向基于机制的z盘病定义。

IF 4.7 2区医学

Current Opinion in Neurology Pub Date : 2025-10-01 Epub Date: 2025-06-09 DOI: 10.1097/WCO.0000000000001397

Michio Inoue, Conrad C Weihl

{"title":"Myofibrillar myopathy: towards a mechanism-based definition as a Z-disk-opathy.","authors":"Michio Inoue, Conrad C Weihl","doi":"10.1097/WCO.0000000000001397","DOIUrl":"10.1097/WCO.0000000000001397","url":null,"abstract":"Purpose of review: Myofibrillar myopathies (MFMs) are traditionally defined by histopathology, but recent genetic discoveries have broadened the spectrum of causative genes beyond Z-disk components. This review aims to address the resulting terminological inconsistency by proposing a refined, mechanism-based definition of MFM centered on its identity as a \"Z-disk-opathy.\" This re-evaluation is timely and relevant for improving diagnostic clarity and guiding future research.Recent findings: The literature increasingly reports MFM-like pathology in conditions caused by mutations in genes not directly encoding Z-disk structural proteins or their interacting chaperones. This review highlights the pathogenic mechanisms distinguishing true MFMs, which involve disruption of Z-disk protein structure or Z-disk protein homeostasis, from \"myopathies with MFM pathology\" that share histological features but stem from different molecular etiologies. Key themes include the dominant nature of mutations in Z-disk structural proteins and the critical role of chaperone dysfunction in MFM pathogenesis.Summary: A refined definition classifying MFM as a \"Z-disk-opathy\" offers a clearer framework for diagnosis and mechanistic understanding. This distinction has significant implications for clinical practice, facilitating more accurate diagnosis, and for research, by supporting the development of targeted therapeutic strategies aimed at either restoring Z-disk proteostasis or mitigating the effects of aberrant protein accumulation.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"513-523"},"PeriodicalIF":4.7,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12354002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144246884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

New insights in the immune treatment of Guillain-Barré syndrome. 格林-巴罗综合征免疫治疗的新见解。

IF 4.4 2区医学

Current Opinion in Neurology Pub Date : 2025-10-01 Epub Date: 2025-07-21 DOI: 10.1097/WCO.0000000000001408

Eveline J A Wiegers, Bart C Jacobs

{"title":"New insights in the immune treatment of Guillain-Barré syndrome.","authors":"Eveline J A Wiegers, Bart C Jacobs","doi":"10.1097/WCO.0000000000001408","DOIUrl":"10.1097/WCO.0000000000001408","url":null,"abstract":"Purpose of review: Guillain-Barré syndrome (GBS) is a severe but treatable form of immune-mediated neuropathy. The purpose of this review is to provide an update on current immune treatments for GBS, highlight challenges in clinical practice and research, and discuss new developments in therapies that focus on reducing inflammation and preventing further nerve damage.Recent findings: In 2023, a GRADE-based guideline was published on the diagnosis and treatment of GBS on behalf of EAN/PNS. Several clinical trials have been conducted in GBS recently, including studies with an observational comparative study design.Summary: Since 30 years, intravenous immunoglobulins and plasma exchange are the only proven effective immune treatments for GBS. Despite these treatments, a substantial proportion of patients recover incompletely and have residual disability or complaints with a high impact on quality of life. New treatment trials focus on reducing immunoglobulin G antibodies to nerves and inhibition of complement activation. Observational comparative studies based on extensive and well defined cohorts are an alternative method to evaluate the effect of treatments in GBS. Several novel study designs are discussed that aim to facilitate the conduct of future trials with more sustainable use of data.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"471-477"},"PeriodicalIF":4.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12419018/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144759389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Autoimmune nodopathies: emerging insights and clinical implications. 自身免疫性结节病：新见解和临床意义

IF 4.4 2区医学

Current Opinion in Neurology Pub Date : 2025-10-01 Epub Date: 2025-06-20 DOI: 10.1097/WCO.0000000000001399

Roger Collet-Vidiella, Alberto De Lorenzo, Luis Querol

{"title":"Autoimmune nodopathies: emerging insights and clinical implications.","authors":"Roger Collet-Vidiella, Alberto De Lorenzo, Luis Querol","doi":"10.1097/WCO.0000000000001399","DOIUrl":"10.1097/WCO.0000000000001399","url":null,"abstract":"Purpose of review: Autoimmune nodopathies (AN) are a recognized distinct group of immune-mediated peripheral neuropathies with unique immunopathological features and therapeutic implications. This review synthesizes recent advances in their pathogenesis, diagnosis, and management, which have refined their clinical classification and informed targeted treatment strategies.Recent findings: AN are characterized by autoantibodies targeting surface proteins in the nodal-paranodal area (anti-contactin-1, anti-contactin-associated protein 1, anti-neurofascin-155, anti-pan-neurofascin), predominantly of IgG4 subclass. Recent studies have delineated antibody subclass contributions to disease mechanisms and identified B-cell response patterns predictive of therapeutic outcomes. Despite clinical overlap with chronic inflammatory demyelinating polyradiculoneuropathy and Guillain-Barré syndrome, AN exhibit a distinct phenotype and a poor response to intravenous immunoglobulins. Multiple studies, including recent ones, report good response and long-term clinical remission with B-cell depleting therapies. Diagnostic assays such as cell-based assays and ELISA offer high accuracy, while biomarker-guided monitoring using antibody titers and serum neurofilament light chain supports individualized follow-up.Summary: Emerging evidence consolidates AN as a nosologically and therapeutically distinct entity. Integration of immunopathological insights with biomarker-driven strategies enables precision diagnostics and targeted immunotherapy, improving clinical outcomes.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":"38 5","pages":"452-458"},"PeriodicalIF":4.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145014110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Nerve ultrasound in the diagnosis of inflammatory neuropathies. 神经超声在炎性神经病中的诊断价值。

IF 4.4 2区医学

Current Opinion in Neurology Pub Date : 2025-10-01 Epub Date: 2025-06-11 DOI: 10.1097/WCO.0000000000001407

Luca Leonardi, Eros Cerantola, Alessandro Salvalaggio

{"title":"Nerve ultrasound in the diagnosis of inflammatory neuropathies.","authors":"Luca Leonardi, Eros Cerantola, Alessandro Salvalaggio","doi":"10.1097/WCO.0000000000001407","DOIUrl":"10.1097/WCO.0000000000001407","url":null,"abstract":"Purpose of review: This review synthesizes the recent advances in the application of nerve ultrasound (US) to inflammatory neuropathies, including chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), multifocal motor neuropathy (MMN), Guillain-Barré syndrome (GBS), neuralgic amyotrophy (NA), Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, Skin changes syndrome (POEMS), and anti-MAG neuropathy. The aim is to clarify nerve US clinical utility and guide its use in clinical practice.Recent findings: Nerve US supports differential diagnosis through characteristic sonographic patterns. In CIDP, it aids in identifying atypical forms, predicting treatment response, and may have a role in follow-up. In MMN, nerve US shows diagnostic value. In GBS, it can help differentiate acute-onset CIDP. In NA, alterations can be detected within hours from the onset. Anti-MAG antibody neuropathy lacks well characterized US features. In POEMS and vasculitis, data are scarce and conflicting.Summary: Nerve US is an established tool for diagnosing neuropathies, as it is noninvasive, accessible, reproducible, and complements electrophysiology. Its role is established in CIDP and its variants, while evidence supports its utility in MMN and the differential diagnosis of neuropathies with an inflammatory-like clinical presentation. In NA, nerve US may outperform neurophysiology. It appears less useful in GBS, POEMS, and anti-MAG neuropathy.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"443-451"},"PeriodicalIF":4.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Update on the clinical and therapeutic aspects of myotonic dystrophy type 1. 1型强直性肌营养不良的临床和治疗进展。

IF 4.4 2区医学

Current Opinion in Neurology Pub Date : 2025-10-01 Epub Date: 2025-05-16 DOI: 10.1097/WCO.0000000000001374

Masanori P Takahashi

{"title":"Update on the clinical and therapeutic aspects of myotonic dystrophy type 1.","authors":"Masanori P Takahashi","doi":"10.1097/WCO.0000000000001374","DOIUrl":"10.1097/WCO.0000000000001374","url":null,"abstract":"Purpose of review: Myotonic dystrophy type 1 (DM1) is a genetically mediated, multisystemic neuromuscular disorder with significant phenotypic heterogeneity. This review aimed to summarize recent advances in clinical understanding, natural history, and therapeutic development, with a focus on cardiac, respiratory, cognitive, and pediatric aspects of DM1.Recent findings: Longitudinal studies are refining the natural history of both adult and pediatric DM1. Advances in biomarker discovery, including composite ribosomal nucleic acid splicing metrics and imaging findings, are improving disease monitoring and treatment assessment. Cardiac risk stratification is evolving, although respiratory management remains challenging due to adherence issues. Increasing attention is being given to cognitive and behavioral impairments, particularly in congenital and childhood-onset DM1. Although disease-modifying therapies remain in development, real-world data on symptomatic treatments such as mexiletine and nonpharmacological interventions, including exercise and cognitive behavioral therapy, provide valuable clinical insights.Summary: Recent literature highlights substantial progress in understanding DM1 across different age groups and organ systems. Although no approved disease-modifying therapies exist, ongoing clinical trials and biomarker advancements offer hope. This review synthesizes these developments to inform clinical management and guide future research efforts.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"531-537"},"PeriodicalIF":4.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Editorial introductions. 编辑介绍。

IF 4.4 2区医学

Current Opinion in Neurology Pub Date : 2025-10-01 Epub Date: 2025-09-04 DOI: 10.1097/WCO.0000000000001423

引用次数: 0

Current understanding of skeletal muscle repeat expansion disorders. 目前对骨骼肌重复扩张障碍的认识。

IF 4.4 2区医学

Current Opinion in Neurology Pub Date : 2025-10-01 Epub Date: 2025-06-09 DOI: 10.1097/WCO.0000000000001394

Manon Boivin, Gianina Ravenscroft

{"title":"Current understanding of skeletal muscle repeat expansion disorders.","authors":"Manon Boivin, Gianina Ravenscroft","doi":"10.1097/WCO.0000000000001394","DOIUrl":"10.1097/WCO.0000000000001394","url":null,"abstract":"Purpose of review: Here, we summarize the current knowledge about the genetics and proposed mechanisms of disease underlying skeletal muscle short tandem repeat (STR) expansion disorders.Recent findings: The human genome contains up to 2 million STRs (also known as microsatellites), which are highly variable repetitions of two to six nucleotide-long DNA motifs. These elements, present in both coding and noncoding sequences, are highly instable, and their polymorphic variations have important roles in genes regulation and human phenotypic trait diversity. Importantly, expansion over a threshold size of a subset of these STR is the cause of approximately 60 neurological diseases, including some major muscle disorders such as myotonic dystrophy, oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy. The discovery and characterisation of a number of these STR expansion disorders, in particular for OPDM, has been enabled in recent years by advanced genomic technologies.Summary: Many recently described STR expansion disorders are now recognized and genetic testing of patients is possible on a research basis, clinical testing for these newly described repeat loci is not yet readily available and is complicated by the reduced penetrance seen in some families, rendering clinical interpretation more difficult. The phenotypic spectrums associated with these STR expansion disorders are also evolving as unbiased sequencing approaches identified expansions at known loci in individuals with phenotypes that are quite different to those in which the STR expansions were first characterized. The pathomechanisms associated with these newer STR expansion disorders is still poorly understood, however there is evidence of both RNA toxicity and polyGly toxicity. Additional STR expansions underlying skeletal muscle diseases are likely to be identified in coming years and may shed further light onto the complex genetics, epigenetics and disease mechanisms underlying these disorders.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"524-530"},"PeriodicalIF":4.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144246883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetics of ALS - genes and modifier. 肌萎缩性侧索硬化症基因及其修饰子的遗传学。

IF 4.4 2区医学

Current Opinion in Neurology Pub Date : 2025-10-01 Epub Date: 2025-08-07 DOI: 10.1097/WCO.0000000000001416

Sonja Menge, Lorena Decker, Axel Freischmidt

{"title":"Genetics of ALS - genes and modifier.","authors":"Sonja Menge, Lorena Decker, Axel Freischmidt","doi":"10.1097/WCO.0000000000001416","DOIUrl":"10.1097/WCO.0000000000001416","url":null,"abstract":"Purpose of review: Amyotrophic lateral sclerosis (ALS) is a complex genetic disorder, and the pace of discoveries is very rapid. This review aims at briefly summarizing our current knowledge, and at discussing the progress of the last two years.Recent findings: Common variation in numerous genes and variants in some nuclear-encoded mitochondrial genes were linked to an increased or modified risk of ALS, respectively. Mitochondrial function, i.e. specific mitochondrial haplotypes and loss-of-function variants in mitochondria-related genes, was identified as potent modifier of ALS survival, but not risk. Pioneering analyses of copy number variations in ALS-related genes revealed an increased load in ALS, but causality is unclear. A rare hyperactive variant of ER stress associated transcription factor CREB3 was linked to both substantially decreased ALS risk and slower disease progression. Furthermore, variants in IGFBP7 were linked to rare \"ALS reversals\", but existence of such phenotypes is controversial.Summary: Common variation increasing ALS risk contributes to our understanding of sporadic ALS, and novel structural variants have the potential to at least partly explain the missing heritability in ALS. Identification of mitochondrial function and ER stress signaling as potent disease modifiers provide valuable starting points for therapeutic approaches beyond targeting single causative genes.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"568-573"},"PeriodicalIF":4.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12419016/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144793686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Antisense oligonucleotide therapy in amyotrophic lateral sclerosis. 反义寡核苷酸治疗肌萎缩性侧索硬化症。

IF 4.4 2区医学

Current Opinion in Neurology Pub Date : 2025-10-01 Epub Date: 2025-08-20 DOI: 10.1097/WCO.0000000000001413

Gergo Erdi-Krausz, Pamela J Shaw

{"title":"Antisense oligonucleotide therapy in amyotrophic lateral sclerosis.","authors":"Gergo Erdi-Krausz, Pamela J Shaw","doi":"10.1097/WCO.0000000000001413","DOIUrl":"10.1097/WCO.0000000000001413","url":null,"abstract":"Purpose of review: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with few treatment options available. The approval of tofersen, an antisense oligonucleotide, for SOD1 -ALS by the FDA and EMA may herald a new era of treatment in these patients.Recent findings: So far, trials against the most common genetic form of ALS, C9orf72 , have been unsuccessful, but new preclinical data may show a promising new direction to take. Clinical trials targeting other, more rare genetic mutations associated with familial ALS are currently underway. Other research assessing the use of ASOs to target aberrant splicing associated with sporadic forms of ALS has also produced promising results in preclinical models, using patient-derived induced cellular models and animal models. These therapies are focussed largely on alleviating and reversing TDP-43 pathology, opening up the possibility of not only arresting disease progression, but reversing neurodegeneration.Summary: ASO therapies have made some promising steps towards treating familial ALS, particularly SOD1 . Ongoing early clinical/preclinical phase research is underway to utilise this technology in other genetic mutations linked with ALS, as well as in sporadic cases.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"574-580"},"PeriodicalIF":4.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144882404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0