Article
A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis.
The International journal of neuroscience - 1 Oct 2020
Tang Yi, Liu Yanqiu, Li Dan, Guo Dongmei, Xing Yi
Abstract excerpt
PURPOSE OF THE STUDY: Cerebrotendinous xanthomatosis (CTX) is an inherited disorder associated with abnormal deposition of cholestenol in the brain and other tissues. Here we report a Chinese family with two affected members of CTX. MATERIALS AND METHODS: Clinical data were collected. Gene analysis, MRI, neuropsychological assessments, and the biopsy of right Achilles tendon xanthoma were carried out. RESULTS:...
Topics
- Cataract
- Cholestanetriol 26-Monooxygenase
- Cognitive Dysfunction
- Diarrhea
- Gait Disorders, Neurologic
- Humans
- Mutation
- Pedigree
- Xanthomatosis, Cerebrotendinous