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

BACKGROUND: Cerebrotendinous 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...

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Detalles Bibliográficos
Autores principales: Chun, Min Young, Heo, Nam Jin, Seo, Sang Won, Jang, Hyemin, Suh, Yeon-Lim, Jang, Ja-Hyun, Kim, Young-Eun, Kim, Eun-Joo, Moon, So Young, Jung, Na-Yeon, Lee, Sun Min, Kim, Hee Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10029355/
https://www.ncbi.nlm.nih.gov/pubmed/36959818
http://dx.doi.org/10.3389/fneur.2023.1131888

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