Article
Cerebrotendinous xanthomatosis: molecular characterization of two Scandinavian sisters.
Journal of internal medicine - 1 Sept 2002
Rystedt E, Olin M, Seyama Y, Buchmann M, Berstad A, Eggertsen G, Björkhem I
Abstract excerpt
Cerebrotendinous xanthomatosis (CTX) is a hereditary disorder, which is inherited as an autosomally recessive disease, causing production of cholesterol and cholestanol xanthomas and mental retardation. The disease is caused by mutations in the gene for sterol 27-hydroxylase (CYP27A1). The only CTX patients diagnosed in Scandinavia are two Norwegian sisters from a consanguineous marriage. Here we have...
Topics
- Adult
- Amino Acid Substitution
- Cell Line
- Cholestanetriol 26-Monooxygenase
- Consanguinity
- Cytochrome P-450 Enzyme System
- DNA Mutational Analysis
- Disease Progression
- Enzyme Activation
- Fatal Outcome
- Female
- Genes, Recessive
- Humans
- Intellectual Disability