The Natural History of Spinocerebellar Ataxia Type 3 in Mainland China: A 2-Year Cohort Study

被引：2

作者：

Peng, Yun ^{[1
]}

Peng, Linliu ^{[1
]}

Chen, Zhao ^{[1
]}

Peng, Huirong ^{[1
]}

Wang, Puzhi ^{[1
]}

Zhang, Youming ^{[2
]}

Li, Yangping ^{[3
]}

Wang, Chunrong ^{[4
]}

Shi, Yuting ^{[1
]}

Hou, Xuan ^{[1
]}

Long, Zhe ^{[5
]}

Yuan, Hongyu ^{[1
]}

Wan, Na ^{[1
]}

Wan, Linlin ^{[1
]}

Xu, Keqin ^{[1
]}

Lei, Lijing ^{[1
]}

Wang, Shang ^{[1
]}

He, Lang ^{[1
]}

Xie, Yue ^{[1
]}

Gong, Yiqing ^{[1
]}

Deng, Qi ^{[1
]}

Zou, Guangdong ^{[1
]}

Tang, Zhichao ^{[1
]}

Shen, Lu ^{[1
,6
,7
,8
,9
]}

Xia, Kun ^{[6
]}

Qiu, Rong ^{[10
]}

Klockgether, Thomas ^{[11
,12
]}

Tang, Beisha ^{[1
,6
,7
,8
,9
]}

Jiang, Hong ^{[1
,6
,7
,8
,9
]}

机构：

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

[2] Cent South Univ, Xiangya Hosp, Dept Radiol, Changsha, Peoples R China

[3] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA USA

[4] Cent South Univ, Xiangya Hosp, Dept Pathol, Changsha, Peoples R China

[5] Cent South Univ, Xiangya Hosp 2, Dept Neurol, Changsha, Peoples R China

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

[7] Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Dis, Changsha, Peoples R China

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

[9] Hunan Int Sci & Technol Cooperat Base Neurodegener, Changsha, Peoples R China

[10] Cent South Univ, Sch Comp Sci & Engn, Changsha, Peoples R China

[11] Univ Bonn, Dept Neurol, Bonn, Germany

[12] German Ctr Neurodegenerat Dis DZNE, Bonn, Germany

来源：

FRONTIERS IN AGING NEUROSCIENCE | 2022年 / 14卷

基金：

中国国家自然科学基金;

关键词：

spinocerebellar ataxia type 3; ATXN3; natural history; disease progression; Machado-Joseph disease (MJD); DISEASE PROGRESSION;

D O I：

10.3389/fnagi.2022.917126

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Objective: The natural history of spinocerebellar ataxia type 3 (SCA3) has been reported in several populations and shows heterogeneity in progression rate and affecting factors. However, it remains unexplored in the population of Mainland China. This study aimed to identify the disease progression rate and its potential affecting factors in patients with SCA3 in Mainland China. Participants and Methods: We enrolled patients with genetically confirmed SCA3 in Mainland China. Patients were seen at three visits, i.e., baseline, 1 year, and 2 years. The primary outcome was the Scale for the Assessment and Rating of Ataxia (SARA), and the secondary outcomes were the Inventory of Non-Ataxia Signs (INAS) as well as the SCA Functional Index (SCAFI). Results: Between 1 October 2015, and 30 September 2016, we enrolled 263 patients with SCA3. We analyzed 247 patients with at least one follow-up visit. The annual progression rate of SARA was 1.49 points per year (SE 0.08, 95% confidence interval [CI] 1.33-1.65, p < 0.0001). The annual progression rates of INAS and SCAFI were 0.56 points per year (SE 0.05, 95% CI 0.47-0.66, p < 0.001) and -0.30 points per year (SE 0.01, 95% CI -0.33 & SIM;-0.28, p < 0.001), respectively. Faster progression in SARA was associated with longer length of the expanded allele of ATXN3 (p < 0.0001); faster progression in INAS was associated with lower INAS at baseline (p < 0.0001); faster decline in SCAFI was associated with shorter length of the normal allele of ATXN3 (p = 0.036) and higher SCAFI at baseline (p < 0.0001). Conclusion: Our results provide quantitative data on the disease progression of patients with SCA3 in Mainland China and its corresponding affecting factors, which could facilitate the sample size calculation and patient stratification in future clinical trials.

引用

页数：8

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