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Clinical, electrophysiological, and genetic characteristics of cerebrotendinous xanthomatosis in South Korea.

Neurocase - 1 Dec 2022

Kim Sunyoung, Park Jin-Sung, Lee Jae-Hyeok, Shin Ha-Young, Yang Hui-Jun, Shin Jin-Hong

Abstract excerpt

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder caused by 27-hydroxylase deficiency. We report the clinical characteristics of six Korean CTX patients. The median age of onset was 22.5 years, the median age at diagnosis was 42 years, and the diagnostic delay was 18.1 years. The most common clinical symptoms were tendon xanthoma and spastic paraplegia. Four of five patients...

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Identifiers

PMID: 36803198
DOI: 10.1080/13554794.2023.2176777

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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