A family case report of spinocerebellar ataxia 6
Journal Title: Chinese Journal of Nervous and Mental Diseases - Year 2025, Vol 51, Issue 2
Abstract
Spinocerebellar ataxia type 6 (SCA6) is a group of autosomal dominant hereditary diseases characterized by cerebellar ataxia, with the typical feature of genetic anticipation. This study reports a family case of SCA6 to enhance understanding of the disease and improve clinical diagnosis rate. The patient was a 61-year-old male, presented mainly with slurred speech and unsteady gait, accompanied by dizziness, choking on drinking water, numbness of limbs, and insomnia. Evoked potential, nerve conduction studies, skin sympathetic responses, electroencephalogram, dementia rating scale, and other tests showed no significant abnormalities. Head MRI revealed marked cerebellar atrophy, and genetic testing confirmed SCA6. His father exhibited similar symptoms, while his daughter was a carrier of the abnormal gene. The patient received treatment including nutritional support, improvement of ataxia, and rehabilitation training. After a one-year follow-up, there was no significant progression of the disease.
Authors and Affiliations
Mengyu HE, Lijun LU, Yu TAN, Youqing DENG
Keywords
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- EP ID EP764328
- DOI 10.3969/j.issn.1002-0152.2025.02.008
- Views 19
- Downloads 0
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