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BMC Neurol. 2011 Oct 21;11:130. doi: 10.1186/1471-2377-11-130.

2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis.

Author information

1
Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, 6 Tiantan Xili, Chongwen District, Beijing 100050, China.

Abstract

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.

PMID:
22018287
PMCID:
PMC3226568
DOI:
10.1186/1471-2377-11-130
[Indexed for MEDLINE]
Free PMC Article

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