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Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy
Author(s) -
Wang Zhaoxia,
Yuan Yun,
Zhang Wei,
Zhang Ying,
Feng Liqun
Publication year - 2007
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.2006.00739.x
Subject(s) - cerebrotendinous xanthomatosis , polyneuropathy , cyp27a1 , compound heterozygosity , medicine , peripheral neuropathy , mutation , pathological , presentation (obstetrics) , pathology , genetics , gene , biology , endocrinology , diabetes mellitus , surgery , cholesterol
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.