Familial spinocerebellar ataxia type 3: A case report of multi-generational presentation
Early genetic testing is critical for a definitive diagnosis, especially in familial cases. The lack of effective therapies underscores the urgency of clinical trials that target polyglutamine toxicity. Multidisciplinary care and patient education are essential for the management of this debilitating disease.
Authors
- Chunhua Pan
- Ji Wang (ORCID: https://orcid.org/0000-0003-1373-5340)
- Zheng Liu (ORCID: https://orcid.org/0000-0002-5733-0436)
- Dan Yang (ORCID: https://orcid.org/0000-0002-7845-9159)
- Ziyi Zhao (ORCID: https://orcid.org/0000-0001-8668-579X)
- Chao Shi (ORCID: https://orcid.org/0000-0002-8669-2030)
- Junting Chen (ORCID: https://orcid.org/0009-0001-3032-2268)
- Hao Huang
Institutions
- Zunyi Medical University (CN)
Publication Details
- Journal
- Medicine
- Published
- 2025-08-08
- DOI
- https://doi.org/10.1097/md.0000000000043812
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00