{"title":"Parkinson disease pathology can originate in the kidney","authors":"Lisa Kiani","doi":"10.1038/s41582-025-01066-x","DOIUrl":"10.1038/s41582-025-01066-x","url":null,"abstract":"New research suggests that pathological α-synuclein in Parkinson disease can propagate from kidney to brain.","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"21 3","pages":"125-125"},"PeriodicalIF":28.2,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143434932","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}
Ruth Dobson, Charlotte Kenten, Joanna Brown, Clarissa Giebel, Sube Banerjee, Claudia Cooper
{"title":"Moving towards meaningful patient and public engagement","authors":"Ruth Dobson, Charlotte Kenten, Joanna Brown, Clarissa Giebel, Sube Banerjee, Claudia Cooper","doi":"10.1038/s41582-025-01061-2","DOIUrl":"10.1038/s41582-025-01061-2","url":null,"abstract":"Patient and public involvement and engagement is increasingly mandated in funding applications, yet often remain tokenistic and transitory. Working with patient and public contributors requires investment, thought, care and time. We discuss approaches that aim to increase agency for coresearchers, with the goal of strengthening public confidence and trust in research.","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"21 3","pages":"121-122"},"PeriodicalIF":28.2,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143375654","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}
{"title":"Nothing about us, without us — establishing a patient and public involvement and engagement group","authors":"Rachel Horne, Rosemary Phillips, Mohammed A. Rauf","doi":"10.1038/s41582-025-01063-0","DOIUrl":"10.1038/s41582-025-01063-0","url":null,"abstract":"Implementation of patient and public involvement and engagement (PPIE) to enable patients and carers to feel included and equal to healthcare professionals is challenging to do well. Here, leaders of a PPIE group share their lived experience and highlight the importance of addressing the needs of all participants to enable true partnership.","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"21 3","pages":"123-124"},"PeriodicalIF":28.2,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143375653","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}
{"title":"The impact of rare genetic variants on Alzheimer disease","authors":"Lara De Deyn, Kristel Sleegers","doi":"10.1038/s41582-025-01062-1","DOIUrl":"10.1038/s41582-025-01062-1","url":null,"abstract":"Alzheimer disease (AD) is a progressive neurodegenerative disease with a strong genetic component. Although autosomal dominant mutations and common risk variants in AD risk have been extensively studied, the genetic underpinning of polygenic AD remains incompletely understood. Rare variants could elucidate part of the missing heritability in AD. Rare variant research gained momentum with the discovery of a rare variant in TREM2, along with loss-of-function variants in ABCA7 and SORL1, and has come into full bloom in recent years. Not only has the number of rare variant discoveries increased through large-scale whole-exome and genome sequencing studies, improved imputation in genome-wide association studies and increased focus on understudied populations, the number of studies mapping the functional effects of several of these rare variants has also significantly increased, leading to insights in the pathogenesis of AD and drug development. Here we provide a comprehensive overview of the known and novel rare variants implicated in AD risk, highlighting how they shine new light on AD pathophysiology and provide new inroads for drug development. We will review their impact on individual, familial and population levels, and discuss the potential and challenges of rare variants in genetic risk prediction. In this Review, the authors summarize the genetic and epidemiological characteristics of rare variants associated with Alzheimer disease so far, and explore the insights that these variants have provided into the pathogenic mechanisms of the disease.","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"21 3","pages":"127-139"},"PeriodicalIF":28.2,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143125375","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}
Medine I. Gulcebi, Sara Leddy, Katherine Behl, Derk-Jan Dijk, Eve Marder, Mark Maslin, Anna Mavrogianni, Michael Tipton, David J. Werring, Sanjay M. Sisodiya
{"title":"Imperatives and co-benefits of research into climate change and neurological disease","authors":"Medine I. Gulcebi, Sara Leddy, Katherine Behl, Derk-Jan Dijk, Eve Marder, Mark Maslin, Anna Mavrogianni, Michael Tipton, David J. Werring, Sanjay M. Sisodiya","doi":"10.1038/s41582-024-01055-6","DOIUrl":"10.1038/s41582-024-01055-6","url":null,"abstract":"Evidence suggests that anthropogenic climate change is accelerating and is affecting human health globally. Despite urgent calls to address health effects in the context of the additional challenges of environmental degradation, biodiversity loss and ageing populations, the effects of climate change on specific health conditions are still poorly understood. Neurological diseases contribute substantially to the global burden of disease, and the possible direct and indirect consequences of climate change for people with these conditions are a cause for concern. Unaccustomed temperature extremes can impair the systems of resilience of the brain, thereby exacerbating or increasing susceptibility to neurological disease. In this Perspective, we explore how changing weather patterns resulting from climate change affect sleep — an essential restorative human brain activity, the quality of which is important for people with neurological diseases. We also consider the pervasive and complex influences of climate change on two common neurological conditions: stroke and epilepsy. We highlight the urgent need for research into the mechanisms underlying the effects of climate change on the brain in health and disease. We also discuss how neurologists can respond constructively to the climate crisis by raising awareness and promoting mitigation measures and research — actions that will bring widespread co-benefits. Evidence suggests that anthropogenic climate change is accelerating, with serious consequences for human health. This Perspective explores how the effects of climate change, such as extreme temperatures, altered weather patterns and increased air pollution, interact with the brain, and discusses how neurologists can respond constructively to the climate crisis.","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"21 4","pages":"216-228"},"PeriodicalIF":28.2,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142989865","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}
{"title":"MS drug beneficial in an underrepresented group","authors":"Ian Fyfe","doi":"10.1038/s41582-025-01060-3","DOIUrl":"10.1038/s41582-025-01060-3","url":null,"abstract":"","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":"21 2","pages":"66-66"},"PeriodicalIF":28.2,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142987521","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}
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