Pub Date : 2025-11-28DOI: 10.1038/s41531-025-01191-w
Chao-Kai Hu, Walaa B. Mohammed, Yutong Bai, Franziska Schmidt, Tiffany A. Rodrigues, Suneil K. Kalia, Alfonso Fasano, Jürgen Germann, Paula Alcaide-Leon, Alexandre Boutet, Andres M. Lozano
{"title":"Limited predictive value of preoperative nigrosome integrity for motor outcomes in Parkinson’s disease deep brain stimulation","authors":"Chao-Kai Hu, Walaa B. Mohammed, Yutong Bai, Franziska Schmidt, Tiffany A. Rodrigues, Suneil K. Kalia, Alfonso Fasano, Jürgen Germann, Paula Alcaide-Leon, Alexandre Boutet, Andres M. Lozano","doi":"10.1038/s41531-025-01191-w","DOIUrl":"https://doi.org/10.1038/s41531-025-01191-w","url":null,"abstract":"","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"8 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145611331","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 : 2025-11-27DOI: 10.1038/s41531-025-01188-5
Longfei Wang, Michael Milton, Liam G. Fearnley, Oneil G. Bhalala, Melanie Bahlo, Haloom Rafehi
Repeat expansions (REs) may be Parkinson’s disease (PD) risk factors. We screened whole genome sequencing data from the AMP PD Lewy Body Dementia (LBD) and PD cohorts for 37 REs associated with neurological disorders, and identified both interrupted and uninterrupted REs in ATXN2 in 4/2431 PD and 2/2468 LBD cases, but none in controls. These findings support pleiotropy for certain REs in PD.
{"title":"Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson’s disease and Lewy Body Dementia cohorts","authors":"Longfei Wang, Michael Milton, Liam G. Fearnley, Oneil G. Bhalala, Melanie Bahlo, Haloom Rafehi","doi":"10.1038/s41531-025-01188-5","DOIUrl":"https://doi.org/10.1038/s41531-025-01188-5","url":null,"abstract":"Repeat expansions (REs) may be Parkinson’s disease (PD) risk factors. We screened whole genome sequencing data from the AMP PD Lewy Body Dementia (LBD) and PD cohorts for 37 REs associated with neurological disorders, and identified both interrupted and uninterrupted REs in <jats:italic>ATXN2</jats:italic> in 4/2431 PD and 2/2468 LBD cases, but none in controls. These findings support pleiotropy for certain REs in PD.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"18 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145609166","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 : 2025-11-27DOI: 10.1038/s41531-025-01215-5
Roshni Jaffery, Yuhang Zhao, Sarfraz Ahmed, Jackson G. Schumacher, Jae Ahn, Leilei Shi, Yujia Wang, Yukun Tan, Jiayin Zhang, Ken Chen, Hussein Tawbi, Jian Wang, Michael A. Schwarzschild, Weiyi Peng, Xiqun Chen
Mutations in LRRK2 , a leading genetic cause of Parkinson’s disease (PD), are linked to immune dysregulation, but the immune profiles in the periphery and central nervous system (CNS) remain incompletely defined. This study utilized a large cohort of serum samples ( n = 651) and matched CSF samples ( n = 129) from LRRK2 mutation carriers and non-carriers, with and without PD, to assess immune regulators using Luminex immunoassay. After correction for multiple comparisons, LRRK2 mutations were associated with significantly elevated serum levels of SDF-1 alpha and TNF-RII, while CSF markers such as BAFF, CD40L, and IL-27 were nominally reduced. Regardless of LRRK2 status, PD was associated with nominally lower levels of inflammatory analytes in CSF, with minimal changes observed in serum. Correlation analyses revealed distinct immune profiles between serum and CSF, suggesting compartmentalized immune responses. These findings highlight immune alterations in LRRK2 mutation carriers and PD, providing potential serum markers for monitoring immune responses and avenues for mechanistic studies.
{"title":"Soluble immune factor profiles in blood and CSF associated with LRRK2 mutations and Parkinson’s disease","authors":"Roshni Jaffery, Yuhang Zhao, Sarfraz Ahmed, Jackson G. Schumacher, Jae Ahn, Leilei Shi, Yujia Wang, Yukun Tan, Jiayin Zhang, Ken Chen, Hussein Tawbi, Jian Wang, Michael A. Schwarzschild, Weiyi Peng, Xiqun Chen","doi":"10.1038/s41531-025-01215-5","DOIUrl":"https://doi.org/10.1038/s41531-025-01215-5","url":null,"abstract":"Mutations in <jats:italic>LRRK2</jats:italic> , a leading genetic cause of Parkinson’s disease (PD), are linked to immune dysregulation, but the immune profiles in the periphery and central nervous system (CNS) remain incompletely defined. This study utilized a large cohort of serum samples ( <jats:italic>n</jats:italic> = 651) and matched CSF samples ( <jats:italic>n</jats:italic> = 129) from <jats:italic>LRRK2</jats:italic> mutation carriers and non-carriers, with and without PD, to assess immune regulators using Luminex immunoassay. After correction for multiple comparisons, <jats:italic>LRRK2</jats:italic> mutations were associated with significantly elevated serum levels of SDF-1 alpha and TNF-RII, while CSF markers such as BAFF, CD40L, and IL-27 were nominally reduced. Regardless of <jats:italic>LRRK2</jats:italic> status, PD was associated with nominally lower levels of inflammatory analytes in CSF, with minimal changes observed in serum. Correlation analyses revealed distinct immune profiles between serum and CSF, suggesting compartmentalized immune responses. These findings highlight immune alterations in <jats:italic>LRRK2</jats:italic> mutation carriers and PD, providing potential serum markers for monitoring immune responses and avenues for mechanistic studies.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"24 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145609167","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 : 2025-11-27DOI: 10.1038/s41531-025-01183-w
Susanne J. Bowen
{"title":"There is not one Parkinson’s disease, nor is there one cure","authors":"Susanne J. Bowen","doi":"10.1038/s41531-025-01183-w","DOIUrl":"https://doi.org/10.1038/s41531-025-01183-w","url":null,"abstract":"","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"10 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145609165","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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