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- W4245506690 abstract "Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease due to a defect in bile acid metabolism. Worldwide, more than 300 patients have been described. Mutations in the <italic>CYP27A1</italic> gene result in sterol 27-hydroxylase deficiency leading to the accumulation of cholestanol in multiple body tissues. Premature cataracts, chronic diarrhea, tendon xanthomas, and neurological deterioration are the predominant clinical features. There are several disease stages, from being nearly asymptomatic in the early childhood years to severe disability in later stages of life. Adult CTX patients are often misdiagnosed initially, especially when tendon xanthomasa are absent. CTX should be considered in all patients with premature cataracts and in patients with neurological features such as spasticity, early-onset dementia, ataxia, or Parkinsonism." @default.
- W4245506690 created "2022-05-12" @default.
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- W4245506690 date "2016-09-01" @default.
- W4245506690 modified "2023-09-23" @default.
- W4245506690 title "Cerebrotendinous Xanthomatosis" @default.
- W4245506690 doi "https://doi.org/10.1093/med/9780199972135.003.0040" @default.
- W4245506690 hasPublicationYear "2016" @default.
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