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携带和不携带GBA1变体的帕金森病患者之间,脑脊液α-突触核蛋白种子和阿尔茨海默病特征的年龄相关分布差异。

Differences in age-related distribution of CSF alpha-synuclein seeding and Alzheimer profiles between PD with and without GBA1 variants.

作者信息

Lerche Stefanie, Wurster Isabel, Roeben Benjamin, Zimmermann Milan, Rossi Marcello, Mammana Angela, Baiardi Simone, Hauser Ann-Kathrin, Deuschle Christian, Schulte Claudia, Parchi Piero, Brockmann Kathrin

机构信息

Department of Neurodegeneration, Center of Neurology, Hertie Institute for Clinical Brain Research, German Center for Neurodegenerative Diseases, University of Tuebingen, Hoppe Seyler‑Strasse 3, 72076, Tuebingen, Germany.

German Center for Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany.

出版信息

NPJ Parkinsons Dis. 2025 May 5;11(1):107. doi: 10.1038/s41531-025-00978-1.

DOI:10.1038/s41531-025-00978-1
PMID:40324994
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12052968/
Abstract

We studied the age- and genetic-related prevalence of CSF alpha-Synuclein seeding and Alzheimer profiles in 188 samples from PD participants without GBA1 variants (PD) and in 129 samples from PD participants with GBA1 variants (PD). While Alzheimer profiles increased with age in PD, it was sparse in PD. Alpha-Synuclein profiles remained stable with age in both cohorts. In PD, combined alpha-Synuclein/Alzheimer profiles were associated with earlier onset of cognitive impairment.

摘要

我们研究了188份来自无GBA1变异的帕金森病参与者(PD)样本以及129份来自有GBA1变异的帕金森病参与者(PD)样本中脑脊液α-突触核蛋白种子和阿尔茨海默病特征与年龄及遗传的相关性患病率。在PD中,阿尔茨海默病特征随年龄增加,但在PD中较为稀少。在两个队列中,α-突触核蛋白特征随年龄保持稳定。在PD中,α-突触核蛋白/阿尔茨海默病联合特征与认知障碍的较早发病相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8725/12052968/f65f44582f47/41531_2025_978_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8725/12052968/41f7eeed31e3/41531_2025_978_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8725/12052968/f65f44582f47/41531_2025_978_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8725/12052968/41f7eeed31e3/41531_2025_978_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8725/12052968/f65f44582f47/41531_2025_978_Fig2_HTML.jpg

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本文引用的文献

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Acta Neuropathol. 2024 Mar 12;147(1):54. doi: 10.1007/s00401-024-02699-w.
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Mov Disord. 2022 May;37(5):1016-1027. doi: 10.1002/mds.28932. Epub 2022 Feb 2.
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