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The Natural History of Spinocerebellar Ataxia Type 3 in Mainland China: A 2-Year Cohort Study.
Peng, Yun; Peng, Linliu; Chen, Zhao; Peng, Huirong; Wang, Puzhi; Zhang, Youming; Li, Yangping; Wang, Chunrong; Shi, Yuting; Hou, Xuan; Long, Zhe; Yuan, Hongyu; Wan, Na; Wan, Linlin; Xu, Keqin; Lei, Lijing; Wang, Shang; He, Lang; Xie, Yue; Gong, Yiqing; Deng, Qi; Zou, Guangdong; Tang, Zhichao; Shen, Lu; Xia, Kun; Qiu, Rong; Klockgether, Thomas; Tang, Beisha; Jiang, Hong.
Afiliação
  • Peng Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Peng L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Chen Z; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Peng H; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Wang P; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Zhang Y; Department of Radiology, Xiangya Hospital, Central South University, Changsha, China.
  • Li Y; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States.
  • Wang C; Department of Pathology, Xiangya Hospital, Central South University, Changsha, China.
  • Shi Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Hou X; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Long Z; Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha, China.
  • Yuan H; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Wan N; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Wan L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Xu K; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Lei L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Wang S; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • He L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Xie Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Gong Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Deng Q; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Zou G; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Tang Z; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Shen L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Xia K; Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
  • Qiu R; National Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, China.
  • Klockgether T; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
  • Tang B; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China.
  • Jiang H; Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
Front Aging Neurosci ; 14: 917126, 2022.
Article em En | MEDLINE | ID: mdl-35865750
ABSTRACT

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∼-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. Trial Registration This study was registered with Chictr.org on 15 September 2015, number ChiCTR-OOC-15007124.
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article