Article
Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism.
Journal of neurology, neurosurgery, and psychiatry - 1 Aug 1999
Wakamatsu N, Hayashi M, Kawai H, Kondo H, Gotoda Y, Nishida Y, Kondo R, Tsuji S, Matsumoto T
Abstract excerpt
OBJECTIVES: Mutational analysis of the sterol 27-hydroxylase (CYP27) gene was performed on three patients from two Japanese families who had cerebrotendinous xanthomatosis (CTX) associated with parkinsonism. METHODS: Clinical evaluations, brain MRI studies, and laboratory analyses were completed on the three patients. The CYP27 gene was analysed for mutations by PCR amplification of gene segments followed by...
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