ORIGINAL RESEARCH article
Front. Neurol.
Sec. Neurogenetics
Volume 16 - 2025 | doi: 10.3389/fneur.2025.1595505
Clinical and genetic analysis of a Case Series of 12 Chinese families with hereditary ataxia
Provisionally accepted
- 1Department of Pediatrics, Xijing Hospital, Fourth Military Medical University, Xi'an, China
- 2Chengdu Women and Children’s Central Hospital, Chengdu, Sichuan Province, China
- 3Children‘s Hospital of Chongqing Medical University, Chongqing, China
- 4Chongqing Qianjiang Central Hospital, Qianjiang, Chongqing, China
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Background and Objective: Hereditary ataxia (HA) encompasses a diverse group of neurological disorders characterized by significant clinical and genetic heterogeneity. This case series study aims to present a case series of HA from Southwest China, thereby expanding the clinical and genetic understanding of the condition. Methods: A comprehensive review of medical records was conducted for patients with progressive ataxia who were evaluated at the Children's Hospital of Chongqing Medical University and Qianjiang Central Hospital. The clinical manifestations, pedigree analysis, neuroimaging, and laboratory evaluations of the probands were systematically examined. Comprehensive genetic testing was conducted on peripheral venous blood samples to investigate HA. Results: The genetic analyses identified spinocerebellar ataxia (SCA) in six families, ataxia-telangiectasia in three families, ataxia with vitamin E deficiency in one family, ATP1A3-associated ataxia in one family, and SPTBN2-associated ataxia in one family. Further subtyping of SCA revealed the presence of SCA types 1, 2, and 3 among the patients. The participants were enrolled an average of 8.5 years after symptom onset, with the age of onset ranging from 1 to 50 years. Gait instability was the most prevalent clinical feature observed in our cohort. Conclusion: We identified 12 families with HA, including four genetic mutations that have not been previously documented. SCA3 was the most frequently inherited dominant ataxia, followed by ataxia-telangiectasia. Whole-exome sequencing has significantly increased the diagnostic yield in patients with suspected genetic ataxia and should be considered for all individuals with negative repeat expansion testing.
Keywords: hereditary ataxia, spinocerebellar ataxia, Pedigree investigation, Clinical manifestation, Genetic Testing
Received: 18 Mar 2025; Accepted: 10 Jun 2025.
Copyright: © 2025 Guo, Wu, Wang, Xiong and Zhong. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Min Zhong, Children‘s Hospital of Chongqing Medical University, Chongqing, China
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