进行性核上性麻痹（PSP）的多因素病因：遗传成分。

IF 9.3 1区医学 Q1 CLINICAL NEUROLOGY

Acta Neuropathologica Pub Date : 2025-06-04 DOI:10.1007/s00401-025-02898-z

Ulrich Müller, Günter Höglinger, Dennis W Dickson

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引用次数: 0

摘要

进行性核上性麻痹（PSP）主要是一种散发性疾病。它有多因素的病因，环境和遗传因素之间的相互作用导致疾病。虽然阐明PSP的环境风险仍处于起步阶段，但在过去几年中，人们对PSP的遗传病因学成分已经有了很多了解。本文综述了传递PSP风险的基因。所有的基因都在关联研究中被鉴定出来。只有那些具有P全基因组显著性标准阈值的基因

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Multifactorial etiology of progressive supranuclear palsy (PSP): the genetic component.

Progressive supranuclear palsy (PSP) is mainly a sporadic disease. It has a multifactorial etiology and an interaction between environmental and genetic factors causes disease. While elucidation of environmental risks for PSP is still in its infancy, much has been learned about the genetic etiological component of PSP during the past few years. This article reviews genes that convey risk for PSP. All genes have been identified in association studies. Only those genes with the standard threshold for genome-wide significance of P < 5E-8 are covered. These genes include MAPT, KANSL1, PLEKHM1, STX6, MOBP, EIF2AK3, SLC01 A2, DUSP10, APOE, RUNX2, TRIM11, NFASC/CNTN2 and LRRK2. The physiologic function of these genes is described and their potential role in the etiology of PSP is discussed.

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来源期刊

Acta Neuropathologica 医学-病理学

CiteScore

23.70

自引率

3.90%

发文量

118

审稿时长

4-8 weeks

期刊介绍： Acta Neuropathologica publishes top-quality papers on the pathology of neurological diseases and experimental studies on molecular and cellular mechanisms using in vitro and in vivo models, ideally validated by analysis of human tissues. The journal accepts Original Papers, Review Articles, Case Reports, and Scientific Correspondence (Letters). Manuscripts must adhere to ethical standards, including review by appropriate ethics committees for human studies and compliance with principles of laboratory animal care for animal experiments. Failure to comply may result in rejection of the manuscript, and authors are responsible for ensuring accuracy and adherence to these requirements.