Analysis of (CAG)n expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy

被引：8

作者：

Zhou, X. ^{[1
]}

Wang, C. ^{[1
]}

Ding, D. ^{[1
]}

Chen, Z. ^{[1
]}

Peng, Y. ^{[1
]}

Peng, H. ^{[1
]}

Hou, X. ^{[1
]}

Wang, P. ^{[1
]}

Hou, X. ^{[1
]}

Ye, W. ^{[1
]}

Li, T. ^{[1
]}

Yang, H. ^{[1
]}

Qiu, R. ^{[4
]}

Xia, K. ^{[2
]}

Sequeiros, J. ^{[5
,6
,7
,8
]}

Tang, B. ^{[1
,2
,3
,9
]}

Jiang, H. ^{[1
,2
,3
]}

机构：

[1] Cent South Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

[2] Cent South Univ, Med Genet Lab, Changsha 410078, Hunan, Peoples R China

[3] Cent South Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha 410008, Hunan, Peoples R China

[4] Cent South Univ, Sch Informat Sci & Engn, Changsha 410083, Hunan, Peoples R China

[5] IBMC, Porto, Portugal

[6] I3S, Porto, Portugal

[7] ICBAS, Porto, Portugal

[8] Univ Porto, Porto, Portugal

[9] Natl Clin Res Ctr Geriatr Disorders, Changsha 410078, Hunan, Peoples R China

来源：

SCIENTIFIC REPORTS | 2018年 / 8卷

基金：

中国国家自然科学基金;

关键词：

SPINOCEREBELLAR ATAXIA TYPE-2; ALPHA-SYNUCLEIN; CLINICAL-FEATURES; CAG REPEAT; GENETICS;

D O I：

10.1038/s41598-018-22290-0

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Multiple system atrophy (MSA) is a complex and multifactorial neurodegenerative disease, and its pathogenesis remains uncertain. Patients with MSA or spinocerebellar ataxia (SCA) show overlapping clinical phenotypes. Previous studies have reported that intermediate or long CAG expansions in SCA genes have been associated with other neurodegenerative disease. In this study, we screened for the number of CAG repeats in ATXN1, 2 and 3 in 200 patients with MSA and 314 healthy controls to evaluate possible associations between (CAG) n in these three polyQ-related genes and MSA. Our findings indicated that longer repeat lengths in ATXN2 were associated with increased risk for MSA in Chinese individuals. No relationship was observed between CAG repeat length in the three examined genes and age at onset (AO) of MSA.

引用

页数：5

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