Background: Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX). Case Presentation: A 36-year-old female with typical CTX clinical manifestation had Spindle-shaped lipid crystal clefts in xanthomas and "onion-like demyelination" in sural nerve. The patient was compound heterozygote carrying two deletions in exon 1 (c.73delG) and exon 2 (c.369_375delGTACCCA). The family memebers were carriers. Conclusions: A Chinese family with Cerebrotendinous Xanthomatosis had typical clinical manifestation. CYP27A1 mutations were found in the proband and all other family members.
第一作者机构：[1]Capital Med Univ, Beijing Tiantan Hosp, Dept Neurol, Beijing 100050, Peoples R China;
通讯作者：
通讯机构：[1]Capital Med Univ, Beijing Tiantan Hosp, Dept Neurol, Beijing 100050, Peoples R China;[2]Capital Med Univ, Beijing Tiantan Hosp, Dept Neurol, 6 Tiantan Xili, Beijing 100050, Peoples R China
推荐引用方式(GB/T 7714)：
Tian Di,Zhang Zai-qiang.2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis[J].BMC NEUROLOGY.2011,11:-.doi:10.1186/1471-2377-11-130.
APA：
Tian, Di&Zhang, Zai-qiang.(2011).2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis.BMC NEUROLOGY,11,
MLA：
Tian, Di,et al."2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis".BMC NEUROLOGY 11.(2011):-
