Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy

作者：Wang, Zhaoxia; Yuan, Yun^*; Zhang, Wei; Zhang, Ying; Feng, Liqun

来源：Neuropathology, 2007, 27(1): 62-66.

DOI：10.1111/j.1440-1789.2006.00739.x

• cerebrotendinous xanthomatosis
• CYP27A1 gene
• 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.

• 出版日期2007-2
• 单位北京大学