Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia

BackgroundCerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by a mutation in the CYP27A1 gene. Due to the disruption of bile acid synthesis leading to cholesterol and cholestanol accumulation, CTX manifests as premature cataracts, chronic diarrhea, and i...

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Bibliographic Details

Published in:	Frontiers in Neurology
Main Authors:	Min Young Chun, Nam Jin Heo, Sang Won Seo, Hyemin Jang, Yeon-Lim Suh, Ja-Hyun Jang, Young-Eun Kim, Eun-Joo Kim, So Young Moon, Na-Yeon Jung, Sun Min Lee, Hee Jin Kim
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-03-01
Subjects:	behavioral variant frontotemporal dementia cerebrotendinous xanthomatosis CYP27A1 gene mutation novel likely pathogenic variant case report
Online Access:	https://www.frontiersin.org/articles/10.3389/fneur.2023.1131888/full