脆性 X 相关震颤/共济失调综合征的最新研究。

Recent research in fragile X-associated tremor/ataxia syndrome.

机构信息

Department of Pediatrics, University of California Davis, Sacramento, CA, USA; Department of Pathology and Laboratory Medicine, University of California Davis, Sacramento, CA, USA; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA.

Department of Pediatrics, University of California Davis, Sacramento, CA, USA; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA.

出版信息

Curr Opin Neurobiol. 2022 Feb;72:155-159. doi: 10.1016/j.conb.2021.11.006. Epub 2021 Dec 7.

DOI:10.1016/j.conb.2021.11.006

PMID:34890957

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cytosine-guanine-guanine repeat expansion neurological disease that occurs in a subset of aging carriers of the premutation (55-200 cytosine-guanine-guanine repeats) in the FMR1 gene located on the X chromosome. The clinical core involves intention tremor and gait ataxia. Current research seeks to clarify the pathophysiology and neuropathology of FXTAS, as well as the development of useful biomarkers to track the progression of FXTAS. Efforts to implement quantitative measures of clinical features, such as kinematics and cognitive measures, are of special interest, in addition to characterize the differences in progression in males compared with females and the efficacy of new treatments.

摘要

脆性 X 相关震颤/共济失调综合征（FXTAS）是一种位于 X 染色体上的 FMR1 基因中的前突变（55-200 个胞嘧啶-鸟嘌呤-鸟嘌呤重复）的部分衰老携带者中发生的环鸟嘌呤核苷酸重复扩增神经系统疾病。其临床核心包括意向性震颤和步态共济失调。目前的研究旨在阐明 FXTAS 的病理生理学和神经病理学，以及开发有用的生物标志物来跟踪 FXTAS 的进展。除了描述男性与女性之间进展的差异以及新疗法的疗效外，特别关注实施临床特征的定量测量，例如运动学和认知测量。