Article
A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis.
Neurology - 1 Jan 1997
Ahmed M S, Afsar S, Hentati A, Ahmad A, Pasha J, Juneja T, Hung W Y, Ahmad A, Choudhri A, Saya S, Siddique T
Abstract excerpt
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of lipid storage with prominent neurologic features. The disease is associated with mutations in CYP27, which encodes mitochondrial sterol 27-hydroxylase, an enzyme that catalyzes the oxidation of sterol intermediates during bile acid synthesis. The loss of this enzyme results in accumulation of cholestanol in the nervous system and other...
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