No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSA

被引：31

作者：

Fan, Yu ^{[1
]}

Zhang, Shuo ^{[1
]}

Yang, Jing ^{[1
]}

Mao, Cheng-yuan ^{[1
]}

Yang, Zhi-hua ^{[1
]}

Hu, Zheng-wei ^{[1
]}

Wang, Yan-lin ^{[1
]}

Liu, Yu-tao ^{[1
]}

Liu, Han ^{[1
]}

Yuan, Yan-peng ^{[1
]}

Shi, Chang-he ^{[1
]}

Xu, Yu-ming ^{[1
]}

机构：

[1] Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R China

来源：

PARKINSONISM & RELATED DISORDERS | 2020年 / 73卷

基金：

国家重点研发计划; 中国国家自然科学基金;

关键词：

Late-onset ataxia; Multiple system atrophy; RFC1; Intronic repeat expansion; Chinese population;

D O I：

10.1016/j.parkreldis.2020.02.017

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We screened the RFC1 intronic AAGGG repeat expansions in late-onset ataxia cases, MSA patients and controls. The data suggested that no biallelic repeat expansion carrier was found in our cohort and the heterozygous intronic AAGGG repeat expansions may not lead to an increased risk of late-onset ataxia or MSA.

引用

页码：1 / 2

页数：2

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