Shuo Guo1, Huiyu Zhong1, Bi Zhao2, Dan Yang3, Zirui Meng1, Binwu Ying4, Minjin Wang5. 1. Department of Laboratory Medicine, West China Hospital of Sichuan University, Sichuan Province, No. 37 Guoxue Lane, Chengdu, 610041, People's Republic of China. 2. Department of Neurology, West China Hospital of Sichuan University, Chengdu, Sichuan, China. 3. Department of Radiology, West China Hospital of Sichuan University, Chengdu, Sichuan, China. 4. Department of Laboratory Medicine, West China Hospital of Sichuan University, Sichuan Province, No. 37 Guoxue Lane, Chengdu, 610041, People's Republic of China. binwuying@126.com. 5. Department of Laboratory Medicine, West China Hospital of Sichuan University, Sichuan Province, No. 37 Guoxue Lane, Chengdu, 610041, People's Republic of China. wang.minjin@outlook.com.
Abstract
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.
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.