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Article

Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews.

Molecular genetics and metabolism - 1 Mar 2025

Hanson Jennifer, Bonnen Penelope E

Abstract excerpt

Cerebrotendinous Xanthomatosis (CTX) is a treatable, inborn error of bile acids metabolism caused by pathogenic variants in CYP27A1. CTX is a multi-organ system disorder that progresses over decades. Clinical features include cerebellar dysfunction, pyramidal tract dysfunction, cognitive deficits and decline, peripheral neuropathy, chronic diarrhea, bilateral cataracts, and tendon xanthomas. Treatment is...

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Identifiers

PMID: 39874852
DOI: 10.1016/j.ymgme.2025.109041
PMCID: PMC13047905

Genes

CYP27A1

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