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帕金森病的临床基因检测应成为常规患者护理的一部分。

Clinical genetic testing in Parkinson's disease should become part of routine patient care.

机构信息

Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4, Canada.

Clinical Research Unit, The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC H3A 2B4, Canada.

出版信息

Brain. 2024 Aug 1;147(8):2595-2597. doi: 10.1093/brain/awae181.

DOI:10.1093/brain/awae181
PMID:39087915
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11292891/
Abstract

This scientific commentary refers to ‘Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s Disease Study’ by Westenberger (https://doi.org/10.1093/brain/awae188) and ‘Parkinson’s disease variant detection and disclosure: PD GENEration, a North American study’ by Cook . (https://doi.org/10.1093/brain/awae142).

摘要

本科学评论提到了 Westenberger 的“基因靶向试验时代遗传检测的相关性:罗斯托克帕金森病研究”(https://doi.org/10.1093/brain/awae188)和 Cook 的“帕金森病变异检测和披露:北美的 PD GENEration 研究”(https://doi.org/10.1093/brain/awae142)。

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2
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.帕金森病变异检测与披露:北美研究项目“PD基因计划”
Brain. 2024 Aug 1;147(8):2668-2679. doi: 10.1093/brain/awae142.
3
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.常染色体显性遗传帕金森病中的 RAB32 Ser71Arg:连锁、关联和功能分析。
Lancet Neurol. 2024 Jun;23(6):603-614. doi: 10.1016/S1474-4422(24)00121-2. Epub 2024 Apr 10.
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Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.在非洲和非洲混合人群中与帕金森病相关的遗传风险基因座和因果关系的鉴定:一项全基因组关联研究。
Lancet Neurol. 2023 Nov;22(11):1015-1025. doi: 10.1016/S1474-4422(23)00283-1. Epub 2023 Aug 23.
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