Document Detail

Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy.
MedLine Citation:
PMID:  17319284     Owner:  NLM     Status:  MEDLINE    
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.
Zhaoxia Wang; Yun Yuan; Wei Zhang; Ying Zhang; Liqun Feng
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Neuropathology : official journal of the Japanese Society of Neuropathology     Volume:  27     ISSN:  0919-6544     ISO Abbreviation:  Neuropathology     Publication Date:  2007 Feb 
Date Detail:
Created Date:  2007-02-26     Completed Date:  2007-03-29     Revised Date:  2012-01-30    
Medline Journal Info:
Nlm Unique ID:  9606526     Medline TA:  Neuropathology     Country:  Australia    
Other Details:
Languages:  eng     Pagination:  62-6     Citation Subset:  IM    
Department of Neurology, First Hospital of Peking University, China.
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MeSH Terms
Base Sequence
Cytochrome P-450 CYP27A1 / genetics
DNA Mutational Analysis
Molecular Sequence Data
Polymerase Chain Reaction
Polyneuropathies / etiology,  pathology*
Sural Nerve / pathology
Xanthomatosis, Cerebrotendinous / complications,  genetics*,  pathology*
Reg. No./Substance:
EC 1.14.-/Cytochrome P-450 CYP27A1; EC protein, human

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