Article
Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.
American journal of medical genetics. Part A - 1 Dec 2005
Guyant-Maréchal Lucie, Verrips Aad, Girard Carole, Wevers Ron A, Zijlstra Fokje, Sistermans Erik, Vera Pierre, Campion Dominique, Hannequin Didier
Abstract excerpt
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol hydroxylase (CYP27). We report a 53-year-old man, with an unusual phenotype of CTX. He had xanthomas since adolescence. He had no mental retardation and developed at 44 years a progressive neuropsychiatric phenotype, suggestive of fronto-temporal dementia according to...
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