Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy.
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.
Wang
Zhaoxia
Z
Department of Neurology, First Hospital of Peking University, China.
Yuan
Yun
Y
Zhang
Wei
W
Zhang
Ying
Y
Feng
Liqun
L
D000328:Adult; D001483:Base Sequence; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011115:Polyneuropathies / Q000209:etiology / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications / Q000235:genetics* / Q000473:pathology*
C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase