Pub Date : 2024-08-06DOI: 10.1038/s41582-024-00999-z
Ellen Hertz, Yu Chen, Ellen Sidransky
An exciting development in the field of neurodegeneration is the association between the rare monogenic disorder Gaucher disease and the common complex disorder Parkinson disease (PD). Gaucher disease is a lysosomal storage disorder resulting from an inherited deficiency of the enzyme glucocerebrosidase, encoded by GBA1, which hydrolyses the glycosphingolipids glucosylceramide and glucosylsphingosine. The observation of parkinsonism in a rare subgroup of individuals with Gaucher disease first directed attention to the role of glucocerebrosidase deficiency in the pathogenesis of PD. PD occurs more frequently in people heterozygous for Gaucher GBA1 mutations, and 3–25% of people with Parkinson disease carry a GBA1 variant. However, only a small percentage of individuals with GBA1 variants develop parkinsonism, suggesting that the penetrance is low. Despite over a decade of intense research in this field, including clinical and radiological evaluations, genetic studies and investigations using model systems, the mechanism underlying GBA1-PD is still being pursued. Insights from this association have emphasized the role of lysosomal pathways in parkinsonism. Furthermore, different therapeutic strategies considered or developed for Gaucher disease can now inform drug development for PD. The association between the rare, monogenic lysosomal storage disorder Gaucher disease and Parkinson disease has provided insights into the pathogenesis of this far more common neurodegenerative disease. Here, Sidransky and colleagues review the knowledge gained from decades of Gaucher disease research and explore the relationship between GBA1 and parkinsonism.
{"title":"Gaucher disease provides a unique window into Parkinson disease pathogenesis","authors":"Ellen Hertz, Yu Chen, Ellen Sidransky","doi":"10.1038/s41582-024-00999-z","DOIUrl":"10.1038/s41582-024-00999-z","url":null,"abstract":"An exciting development in the field of neurodegeneration is the association between the rare monogenic disorder Gaucher disease and the common complex disorder Parkinson disease (PD). Gaucher disease is a lysosomal storage disorder resulting from an inherited deficiency of the enzyme glucocerebrosidase, encoded by GBA1, which hydrolyses the glycosphingolipids glucosylceramide and glucosylsphingosine. The observation of parkinsonism in a rare subgroup of individuals with Gaucher disease first directed attention to the role of glucocerebrosidase deficiency in the pathogenesis of PD. PD occurs more frequently in people heterozygous for Gaucher GBA1 mutations, and 3–25% of people with Parkinson disease carry a GBA1 variant. However, only a small percentage of individuals with GBA1 variants develop parkinsonism, suggesting that the penetrance is low. Despite over a decade of intense research in this field, including clinical and radiological evaluations, genetic studies and investigations using model systems, the mechanism underlying GBA1-PD is still being pursued. Insights from this association have emphasized the role of lysosomal pathways in parkinsonism. Furthermore, different therapeutic strategies considered or developed for Gaucher disease can now inform drug development for PD. The association between the rare, monogenic lysosomal storage disorder Gaucher disease and Parkinson disease has provided insights into the pathogenesis of this far more common neurodegenerative disease. Here, Sidransky and colleagues review the knowledge gained from decades of Gaucher disease research and explore the relationship between GBA1 and parkinsonism.","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":null,"pages":null},"PeriodicalIF":28.2,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141897891","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}
Pub Date : 2024-08-06DOI: 10.1038/s41582-024-01010-5
Lisa Kiani
{"title":"Shared glial pathology in HD and schizophrenia","authors":"Lisa Kiani","doi":"10.1038/s41582-024-01010-5","DOIUrl":"10.1038/s41582-024-01010-5","url":null,"abstract":"","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":null,"pages":null},"PeriodicalIF":28.2,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141897893","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}
Pub Date : 2024-08-02DOI: 10.1038/s41582-024-01003-4
Mitchell S. V. Elkind, Kevin G. Volpp
The importance of diet for brain health is increasingly recognized by neurologists, but many neurological disorders impair the ability of individuals to eat healthily. A new initiative known as ‘Food Is Medicine’ has the potential to facilitate healthier eating among people with neurological disorders to improve and maintain brain health.
{"title":"Food is brain medicine — relevance and translation to neurology","authors":"Mitchell S. V. Elkind, Kevin G. Volpp","doi":"10.1038/s41582-024-01003-4","DOIUrl":"10.1038/s41582-024-01003-4","url":null,"abstract":"The importance of diet for brain health is increasingly recognized by neurologists, but many neurological disorders impair the ability of individuals to eat healthily. A new initiative known as ‘Food Is Medicine’ has the potential to facilitate healthier eating among people with neurological disorders to improve and maintain brain health.","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":null,"pages":null},"PeriodicalIF":28.2,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141877446","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}
Pub Date : 2024-07-12DOI: 10.1038/s41582-024-00998-0
Agustin Ibanez, Andrea Slachevsky
Current dementia research has developed complex models of environmental–genetic interactions to better address multimodal disease phenotypes. New evidence highlights a stronger effect of social determinants of health than ancestry effects specific to Latin America and the Caribbean, which opens new agendas to address the diversity of these interactions in ageing and dementia. A new study on dementia prevalence in Latin America has found a stronger effect of social determinants of health than ancestry effects specific to this region, highlighting the need for interventions involving lifestyle changes, healthcare access and education.
{"title":"Environmental–genetic interactions in ageing and dementia across Latin America","authors":"Agustin Ibanez, Andrea Slachevsky","doi":"10.1038/s41582-024-00998-0","DOIUrl":"10.1038/s41582-024-00998-0","url":null,"abstract":"Current dementia research has developed complex models of environmental–genetic interactions to better address multimodal disease phenotypes. New evidence highlights a stronger effect of social determinants of health than ancestry effects specific to Latin America and the Caribbean, which opens new agendas to address the diversity of these interactions in ageing and dementia. A new study on dementia prevalence in Latin America has found a stronger effect of social determinants of health than ancestry effects specific to this region, highlighting the need for interventions involving lifestyle changes, healthcare access and education.","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":null,"pages":null},"PeriodicalIF":28.2,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141597398","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}
Pub Date : 2024-07-09DOI: 10.1038/s41582-024-00993-5
Heather Wood
{"title":"Additive effects of EBV and HHV-6A on MS risk","authors":"Heather Wood","doi":"10.1038/s41582-024-00993-5","DOIUrl":"10.1038/s41582-024-00993-5","url":null,"abstract":"","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":null,"pages":null},"PeriodicalIF":28.2,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141559322","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}
Pub Date : 2024-07-09DOI: 10.1038/s41582-024-00997-1
Lisa Kiani
Concentrations of TDP-43 and tau in extracellular vesicles extracted from blood show potential as biomarkers for frontotemporal dementia, amyotrophic lateral sclerosis and progressive supranuclear palsy.
{"title":"Plasma extracellular vesicle biomarkers for frontotemporal dementia and related disorders","authors":"Lisa Kiani","doi":"10.1038/s41582-024-00997-1","DOIUrl":"10.1038/s41582-024-00997-1","url":null,"abstract":"Concentrations of TDP-43 and tau in extracellular vesicles extracted from blood show potential as biomarkers for frontotemporal dementia, amyotrophic lateral sclerosis and progressive supranuclear palsy.","PeriodicalId":19085,"journal":{"name":"Nature Reviews Neurology","volume":null,"pages":null},"PeriodicalIF":28.2,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141559325","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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