Related Experiment Video
Updated: Aug 1, 2026
A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
Chinese abnormal compound heterozygote spinocerebellar ataxia type 8: a case report
Shuo Guo1, Huiyu Zhong1, Bi Zhao2
1Department of Laboratory Medicine, West China Hospital of Sichuan University, Sichuan Province, No. 37 Guoxue Lane, Chengdu, 610041, People's Republic of China.
Case Reports:
An elderly Chinese male patient was diagnosed with compound heterozygous spinocerebellar ataxia type 8; molecular diagnosis found that the (CTA)n(CTG)n repeat unit of his ATXN8/ATXN8OS gene was 134/93. The patient has a 6-year medical history, mainly manifested by ataxia, dysarthria, abnormal eye movements, and pyramidal signs. Magnetic resonance imaging (MRI) showed no obvious abnormalities in the medulla oblongata and cervical spinal cord except for cerebellar atrophy and sulci enlargement. There are heterozygous SCA8 individuals among his family members, but there are significant differences in their onset age and clinical manifestations.
Discussion And Conclusion:
This case reminds us that (CTA)n(CTG)n repeats are very prone to dynamic mutations in intergenerational inheritance, and the ATXN8/ATXN8OS gene penetrance is different in different SCA8 individuals, which suggests that genetic detection is of great importance.
