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Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.

Cerebellum (London, England) - 13 Jan 2026

Du Kefang, Wang Chunrong, Wan Linlin, Chen Zhao, Yuan Hongyu, Jiang Qian, Dong Xiao, Chen Daji, Ouyang Riwei, Long Xiafei, Wu Xiaokang, Xiao Xinying, He Ruqing, Qiu Rong, Jiang Hong

Abstract excerpt

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disorder characterized by multisystem involvement and marked clinical heterogeneity. Pathogenic variants in the CYP27A1 gene, encoding mitochondrial sterol-27-hydroxylase, disrupt bile acid synthesis, leading to pathological accumulation of cholestanol in neural tissues, tendons, and other organs. This study aimed to characterize...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41528650
DOI: 10.1007/s12311-025-01955-3

Genes

CYP27A1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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