Nature Reviews Neurology最新文献

GLP-1 is implicated in area postrema syndrome in people with NMOSD. GLP-1与NMOSD患者的残区综合征有关。

IF 38.1 1区医学

Nature Reviews Neurology Pub Date : 2025-10-01 DOI: 10.1038/s41582-025-01150-2

Heather Wood

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Timing of hormone replacement therapy could influence Alzheimer disease risk. 激素替代疗法的时机可能会影响阿尔茨海默病的风险。

IF 38.1 1区医学

Nature Reviews Neurology Pub Date : 2025-10-01 DOI: 10.1038/s41582-025-01149-9

Heather Wood

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Parkinson disease is a fatty acidopathy. 帕金森病是一种脂肪性酸中毒。

IF 38.1 1区医学

Nature Reviews Neurology Pub Date : 2025-10-01 DOI: 10.1038/s41582-025-01142-2

Saranna Fanning,Dennis Selkoe

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Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectives. 1型肌强直性营养不良：临床多样性，分子见解和治疗观点。

IF 38.1 1区医学

Nature Reviews Neurology Pub Date : 2025-09-22 DOI: 10.1038/s41582-025-01139-x

Lisa Rahm,Melissa A Hale,Renée H L Raaijmakers,Alexandra Marrero Quiñones,Tejal Patki,Nicholas E Johnson,Hans van Bokhoven,Karlien Mul

{"title":"Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectives.","authors":"Lisa Rahm,Melissa A Hale,Renée H L Raaijmakers,Alexandra Marrero Quiñones,Tejal Patki,Nicholas E Johnson,Hans van Bokhoven,Karlien Mul","doi":"10.1038/s41582-025-01139-x","DOIUrl":"https://doi.org/10.1038/s41582-025-01139-x","url":null,"abstract":"Myotonic dystrophy type 1 (DM1) is the most prevalent muscular dystrophy in adulthood and is one of the most clinically diverse monogenic diseases. Although it is classified as a neuromuscular disease, DM1 is a multisystem disorder that affects nearly all organ systems, particularly skeletal and smooth muscles, the central nervous system and the heart. Its phenotypic variability extends beyond a continuum of severity, encompassing differences in age of onset and organ involvement. DM1 is caused by a trinucleotide (CTG) repeat expansion within the 3' untranslated region of the DMPK gene, leading to a toxic RNA gain-of-function mechanism that disrupts RNA splicing, causing widespread cellular dysfunction. Despite progress in understanding DM1 pathogenesis, gaps remain in elucidating genotype-phenotype correlations, genetic modifiers and mechanisms that influence disease progression. Breakthroughs in the past five to ten years have uncovered important insights into the molecular underpinnings of DM1 and accelerated therapeutic innovation. Targeted interventions such as small molecules, antisense oligonucleotides and gene-editing technologies are progressing into clinical trials. Additionally, emerging research on somatic instability, epigenetic modifications and novel biomarkers suggests approaches for precision medicine. This Review synthesizes recent clinical and molecular discoveries, highlighting implications for therapy development. By integrating clinical heterogeneity with mechanistic insights, we provide a framework for future translational research and therapeutic innovation in this life-limiting disease.","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"9 1","pages":""},"PeriodicalIF":38.1,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145117156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Progress and challenges in sporadic late-onset cerebellar ataxias. 散发性晚发型小脑共济失调的进展与挑战。

IF 38.1 1区医学

Nature Reviews Neurology Pub Date : 2025-09-22 DOI: 10.1038/s41582-025-01136-0

Thomas Wirth,Jennifer Faber,Christel Depienne,Emmanuel Roze,Jérôme Honnorat,Wassilios G Meissner,Paola Giunti,Christine Tranchant,Thomas Klockgether,Mathieu Anheim

{"title":"Progress and challenges in sporadic late-onset cerebellar ataxias.","authors":"Thomas Wirth,Jennifer Faber,Christel Depienne,Emmanuel Roze,Jérôme Honnorat,Wassilios G Meissner,Paola Giunti,Christine Tranchant,Thomas Klockgether,Mathieu Anheim","doi":"10.1038/s41582-025-01136-0","DOIUrl":"https://doi.org/10.1038/s41582-025-01136-0","url":null,"abstract":"Sporadic late-onset cerebellar ataxia (SLOCA) is a syndrome defined by subacute or chronic and progressive ataxia occurring after the age of 40 years in individuals without a family history of ataxia. The 2022 publication of revised consensus diagnostic criteria for multiple system atrophy and the emergence of promising biomarkers provides a thorough diagnostic framework that now enables the diagnosis of numerous acquired causes of SLOCA, including autoimmune disorders and neurodegenerative diseases. The ongoing development and increased availability of DNA sequencing technology have uncovered several molecular causes of SLOCA besides spastic paraplegia type 7 and very late-onset Friedreich ataxia. These additional causes include sporadic genetic disorders, such as spinocerebellar atrophy type 27B, caused by GAA expansion in the FGF14 gene, and cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS), caused by biallelic expansions in the RFC1 gene. This Review presents an updated clinical approach to the diagnosis and management of SLOCA that focuses on the most important developments in this field. Future challenges are also discussed, including the identification of additional missing genetic causes of SLOCA, especially via the use of long-read genome sequencing, improvements in SLOCA prognostication and the implementation of clinical trials of neuroprotective interventions.","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"88 1","pages":""},"PeriodicalIF":38.1,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145117157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

A paradigm shift away from dissemination in time in multiple sclerosis. 从多发性硬化症的及时传播的范式转变。

IF 38.1 1区医学

Nature Reviews Neurology Pub Date : 2025-09-17 DOI: 10.1038/s41582-025-01138-y

Agustín Pappolla,Georgina Arrambide,Xavier Montalban

引用次数: 0

The multiple sclerosis prodrome: insights into how and when disease starts. 多发性硬化症前驱症状：疾病如何及何时开始的见解。

IF 38.1 1区医学

Nature Reviews Neurology Pub Date : 2025-09-17 DOI: 10.1038/s41582-025-01144-0

Helen Tremlett

引用次数: 0

The 2024 revisions of the McDonald criteria pose risk of multiple sclerosis overdiagnosis. 2024年修订的麦当劳标准增加了多发性硬化症过度诊断的风险。

IF 38.1 1区医学

Nature Reviews Neurology Pub Date : 2025-09-17 DOI: 10.1038/s41582-025-01140-4

Andrew J Solomon,John B Brodersen

引用次数: 0

Implementation of the 2024 revision of the McDonald criteria for multiple sclerosis. 实施2024年修订的多发性硬化症麦克唐纳标准。

IF 38.1 1区医学

Nature Reviews Neurology Pub Date : 2025-09-17 DOI: 10.1038/s41582-025-01141-3

Marcello Moccia,Olga Ciccarelli,Alan Thompson

引用次数: 0

Non-invasive brain stimulation: current and future applications in neurology. 非侵入性脑刺激：神经病学的当前和未来应用。

IF 38.1 1区医学

Nature Reviews Neurology Pub Date : 2025-09-16 DOI: 10.1038/s41582-025-01137-z

Irena Rektorová,Monika Pupíková,Lisa Fleury,Luboš Brabenec,Friedhelm C Hummel

{"title":"Non-invasive brain stimulation: current and future applications in neurology.","authors":"Irena Rektorová,Monika Pupíková,Lisa Fleury,Luboš Brabenec,Friedhelm C Hummel","doi":"10.1038/s41582-025-01137-z","DOIUrl":"https://doi.org/10.1038/s41582-025-01137-z","url":null,"abstract":"Device-based non-invasive brain stimulation (NIBS) techniques show promise for the treatment of neurological and psychiatric disorders, although inconsistencies in protocol designs and study findings can make the field difficult to navigate. In this Review, we discuss applications of NIBS for enhancing cognitive and motor function in people with various neurological diseases that are characterized by disruption of large-scale brain networks, including neurodegenerative diseases and brain lesion disorders such as stroke and traumatic brain injury. In particular, we focus on repetitive transcranial magnetic stimulation and transcranial electrical stimulation, as these techniques have been widely used in clinical settings and randomized controlled trials. We summarize and synthesize current knowledge, and highlight gaps and shortcomings in the existing research that make it difficult to draw firm conclusions, including small sample sizes, heterogeneous patient populations and variations in stimulation protocols. We believe that a rapid evolution of NIBS techniques from state-dependent, network-informed, multifocal and subcortical paradigms to individualized electric field modelling and accelerated NIBS protocols will improve the management of neurological disorders. However, realizing this potential will require us to address crucial challenges and acquire deeper mechanistic insights, with the aim of developing adaptive, biomarker-driven protocols to optimize target engagement, dosing and timing for each patient.","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"14 1","pages":""},"PeriodicalIF":38.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145071764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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