Clinical phenotype and gene mutation analysis on a family of hereditary spastic ataxia type 2
Objective To investigate the clinical phenotype and genotype manifestations of autosomal recessive hereditary spastic ataxia 2 (SPAX2), to help physicians recognize this disease. Methods and Results A 35-year-old male patient presented with postural tremors, ataxia, hyperreflexia and then got worse...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Tianjin Huanhu Hospital
2019-06-01
|
| Series: | Chinese Journal of Contemporary Neurology and Neurosurgery |
| Subjects: | |
| Online Access: | http://cjcnn.org/index.php/cjcnn/article/view/1969 |