Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report

Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report

Abstract Background Cerebrotendinous xanthomatosis (CTX) is an autosomal-recessive lipid storage disorder caused by mutations in the CYP27A1 gene encoding the key enzyme in the bile acid synthesis, sterol 27-hydroxylase. Here, we report two Japanese CTX siblings with a novel compound heterozygous CY...

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Bibliographic Details
Main Authors: Shingo Koyama, Yuma Okabe, Yuya Suzuki, Ryosuke Igari, Hiroyasu Sato, Chifumi Iseki, Kazuyo Tanji, Kyoko Suzuki, Yasuyuki Ohta
Format: Article
Language:English
Published: BMC 2022-05-01
Series:BMC Neurology
Subjects:
CTX
CYP27A1
Cholestanol
Chenodeoxycholic acid
Case report
Online Access:https://doi.org/10.1186/s12883-022-02711-4

Internet

https://doi.org/10.1186/s12883-022-02711-4

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