Frontiers in Aging Neuroscience (Jul 2022)
The Natural History of Spinocerebellar Ataxia Type 3 in Mainland China: A 2-Year Cohort Study
- Yun Peng,
- Linliu Peng,
- Zhao Chen,
- Huirong Peng,
- Puzhi Wang,
- Youming Zhang,
- Yangping Li,
- Chunrong Wang,
- Yuting Shi,
- Xuan Hou,
- Zhe Long,
- Hongyu Yuan,
- Na Wan,
- Linlin Wan,
- Keqin Xu,
- Lijing Lei,
- Shang Wang,
- Lang He,
- Yue Xie,
- Yiqing Gong,
- Qi Deng,
- Guangdong Zou,
- Zhichao Tang,
- Lu Shen,
- Lu Shen,
- Lu Shen,
- Lu Shen,
- Lu Shen,
- Kun Xia,
- Rong Qiu,
- Thomas Klockgether,
- Thomas Klockgether,
- Beisha Tang,
- Beisha Tang,
- Beisha Tang,
- Beisha Tang,
- Beisha Tang,
- Hong Jiang,
- Hong Jiang,
- Hong Jiang,
- Hong Jiang,
- Hong Jiang
Affiliations
- Yun Peng
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Linliu Peng
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Zhao Chen
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Huirong Peng
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Puzhi Wang
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Youming Zhang
- Department of Radiology, Xiangya Hospital, Central South University, Changsha, China
- Yangping Li
- Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States
- Chunrong Wang
- Department of Pathology, Xiangya Hospital, Central South University, Changsha, China
- Yuting Shi
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Xuan Hou
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Zhe Long
- Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha, China
- Hongyu Yuan
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Na Wan
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Linlin Wan
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Keqin Xu
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Lijing Lei
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Shang Wang
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Lang He
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Yue Xie
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Yiqing Gong
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Qi Deng
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Guangdong Zou
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Zhichao Tang
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Lu Shen
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Lu Shen
- Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China
- Lu Shen
- National Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, China
- Lu Shen
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
- Lu Shen
- Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China
- Kun Xia
- Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China
- Rong Qiu
- 0School of Computer Science and Engineering, Central South University, Changsha, China
- Thomas Klockgether
- 1Department of Neurology, University of Bonn, Bonn, Germany
- Thomas Klockgether
- 2German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany
- Beisha Tang
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Beisha Tang
- Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China
- Beisha Tang
- National Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, China
- Beisha Tang
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
- Beisha Tang
- Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China
- Hong Jiang
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Hong Jiang
- Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China
- Hong Jiang
- National Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, China
- Hong Jiang
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
- Hong Jiang
- Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China
- DOI
- https://doi.org/10.3389/fnagi.2022.917126
- Journal volume & issue
-
Vol. 14
Abstract
ObjectiveThe 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 MethodsWe 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).ResultsBetween 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∼-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).ConclusionOur 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.Trial RegistrationThis study was registered with Chictr.org on 15 September 2015, number ChiCTR-OOC-15007124.
Keywords
- spinocerebellar ataxia type 3
- ATXN3
- natural history
- disease progression
- Machado-Joseph disease (MJD)
