Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy

Zhaoxia Wang; Yun Yuan; Wei Zhang; Ying Zhang; Liqun Feng

doi:10.1111/j.1440-1789.2006.00739.x

Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy

Neuropathology. 2007 Feb;27(1):62-6. doi: 10.1111/j.1440-1789.2006.00739.x.

Authors

Zhaoxia Wang¹, Yun Yuan, Wei Zhang, Ying Zhang, Liqun Feng

Affiliation

¹ Department of Neurology, First Hospital of Peking University, China.

PMID: 17319284
DOI: 10.1111/j.1440-1789.2006.00739.x

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessively inherited lipid storage disorder with multiple system involvement and has been reported worldwide. Here we report a Chinese family with CTX and present the pathological findings within peripheral nerves and CYP27A1 gene mutation analysis. We also review the published literature to discuss the clinical presentation and classification of neuropathy in this disease.

Publication types

Case Reports

MeSH terms

Adult
Base Sequence
Cholestanetriol 26-Monooxygenase / genetics
DNA Mutational Analysis
Female
Heterozygote*
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Polyneuropathies / etiology
Polyneuropathies / pathology*
Sural Nerve / pathology
Xanthomatosis, Cerebrotendinous / complications
Xanthomatosis, Cerebrotendinous / genetics*
Xanthomatosis, Cerebrotendinous / pathology*

Substances

CYP27A1 protein, human
Cholestanetriol 26-Monooxygenase