Nature Reviews Neurology最新文献

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Fatigue: a common but poorly understood symptom in neurological and non-neurological diseases. 疲劳:神经和非神经疾病中一种常见但了解甚少的症状。
IF 38.1 1区 医学
Nature Reviews Neurology Pub Date : 2025-10-24 DOI: 10.1038/s41582-025-01153-z
Iris-Katharina Penner,Matthias Grothe,Andrew Chan
{"title":"Fatigue: a common but poorly understood symptom in neurological and non-neurological diseases.","authors":"Iris-Katharina Penner,Matthias Grothe,Andrew Chan","doi":"10.1038/s41582-025-01153-z","DOIUrl":"https://doi.org/10.1038/s41582-025-01153-z","url":null,"abstract":"Fatigue is a severely disabling symptom that can substantially impair quality of life and employment prospects, and has serious socioeconomic consequences. Different individual and disease-related variables interact to generate this complex symptom, leading to clinical heterogeneity. We currently lack a common understanding and definition of fatigue and its origins, thereby impeding professional exchange among disciplines regarding diagnosis and underlying pathophysiology. To aid the development of a common language that encapsulates the heterogeneity of fatigue, we propose a taxonomy consisting of neurogenic, myogenic and systemic clusters. Each cluster comprises the same five distinct concepts and their phenotypic expression. The interplay between multifactorial pathophysiological mechanisms might vary between diseases and over time, and additional factors such as comorbidities can modulate fatigue. Understanding this complexity is essential to improve both the diagnostic process and the development of targeted therapeutic interventions. In this Review, we compare the clinical and pathophysiological characteristics of a range of neurological and non-neurological diseases within predefined clusters of fatigue origin. We propose an integrative model for fatigue of different origin and over time based on the interplay of genetics and epigenetics, immunological changes, structural and functional brain abnormalities, and behavioural alterations. Large research consortia will be required to tackle the methodological shortcomings that currently hamper our understanding of fatigue and to initiate large longitudinal cohort studies with multidimensional readouts to further explore and address this burdensome symptom.","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"79 1","pages":""},"PeriodicalIF":38.1,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145357687","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
Cerebellar pathology in spinal muscular atrophy. 脊髓性肌萎缩症的小脑病理。
IF 38.1 1区 医学
Nature Reviews Neurology Pub Date : 2025-10-08 DOI: 10.1038/s41582-025-01158-8
Lisa Kiani
{"title":"Cerebellar pathology in spinal muscular atrophy.","authors":"Lisa Kiani","doi":"10.1038/s41582-025-01158-8","DOIUrl":"https://doi.org/10.1038/s41582-025-01158-8","url":null,"abstract":"","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"14 1","pages":""},"PeriodicalIF":38.1,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145246614","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
Real-world effectiveness of stem cell transplantation for multiple sclerosis. 干细胞移植治疗多发性硬化症的现实效果。
IF 38.1 1区 医学
Nature Reviews Neurology Pub Date : 2025-10-07 DOI: 10.1038/s41582-025-01157-9
Lisa Kiani
{"title":"Real-world effectiveness of stem cell transplantation for multiple sclerosis.","authors":"Lisa Kiani","doi":"10.1038/s41582-025-01157-9","DOIUrl":"https://doi.org/10.1038/s41582-025-01157-9","url":null,"abstract":"","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"1 1","pages":""},"PeriodicalIF":38.1,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145241002","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
Glioblastomas divert glucose to promote growth. 胶质母细胞瘤转移葡萄糖以促进生长。
IF 38.1 1区 医学
Nature Reviews Neurology Pub Date : 2025-10-07 DOI: 10.1038/s41582-025-01156-w
Lisa Kiani
{"title":"Glioblastomas divert glucose to promote growth.","authors":"Lisa Kiani","doi":"10.1038/s41582-025-01156-w","DOIUrl":"https://doi.org/10.1038/s41582-025-01156-w","url":null,"abstract":"","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"5 1","pages":""},"PeriodicalIF":38.1,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145240963","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
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
{"title":"GLP-1 is implicated in area postrema syndrome in people with NMOSD.","authors":"Heather Wood","doi":"10.1038/s41582-025-01150-2","DOIUrl":"https://doi.org/10.1038/s41582-025-01150-2","url":null,"abstract":"","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"5 1","pages":""},"PeriodicalIF":38.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145203664","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
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
{"title":"Timing of hormone replacement therapy could influence Alzheimer disease risk.","authors":"Heather Wood","doi":"10.1038/s41582-025-01149-9","DOIUrl":"https://doi.org/10.1038/s41582-025-01149-9","url":null,"abstract":"","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"19 1","pages":""},"PeriodicalIF":38.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145203876","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
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
{"title":"Parkinson disease is a fatty acidopathy.","authors":"Saranna Fanning,Dennis Selkoe","doi":"10.1038/s41582-025-01142-2","DOIUrl":"https://doi.org/10.1038/s41582-025-01142-2","url":null,"abstract":"On the basis of extensive mechanistic research over three decades, Parkinson disease (PD) and related synucleinopathies have been proposed to be combined proteinopathies and lipidopathies. Evidence strongly supports a physiological and pathogenic interplay between the disease-associated protein α-synuclein and lipids, with a demonstrable role for lipids in modulating PD phenotypes in the brain. Here, we refine this hypothesis by proposing PD to be a disease specifically involving metabolic dysregulation of fatty acids, a 'fatty acidopathy'. We review extensive findings from many laboratories supporting the perspective that PD centres on fatty acid dyshomeostasis - alterations in the fatty acid-ome - as the critical feature of lipid aberration in PD and other α-synucleinopathies. This construct places transient α-synuclein binding to fatty acid side chains of cytoplasmic vesicles as a principal contributor to the biology of PD-relevant α-synuclein-membrane interactions. We propose that α-synuclein-fatty acid interactions in the fatty acid-rich brain are interdependent determinants of the gradual progression from neuronal health to PD, with attendant therapeutic implications.","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"4 1","pages":""},"PeriodicalIF":38.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145203663","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
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
{"title":"A paradigm shift away from dissemination in time in multiple sclerosis.","authors":"Agustín Pappolla,Georgina Arrambide,Xavier Montalban","doi":"10.1038/s41582-025-01138-y","DOIUrl":"https://doi.org/10.1038/s41582-025-01138-y","url":null,"abstract":"","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"38 1","pages":""},"PeriodicalIF":38.1,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145077897","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
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