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

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...

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Bibliographic Details
Published in:Neurocase 2022-12, Vol.28 (6), p.477-482
Main Authors: Kim, Sunyoung, Park, Jin-Sung, Lee, Jae-Hyeok, Shin, Ha-Young, Yang, Hui-Jun, Shin, Jin-Hong
Format: Article
Language:English
Subjects:
Adult
Cholestanetriol 26-Monooxygenase - genetics
Delayed Diagnosis
Diagnosis
Electrophysiological Phenomena
Hereditary diseases
Hereditary spastic paraplegia
Humans
Mutation
Neurodegenerative diseases
Republic of Korea
Spasticity
Xanthoma
Xanthomatosis
Xanthomatosis, Cerebrotendinous - diagnosis
Xanthomatosis, Cerebrotendinous - genetics
Young Adult
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Summary: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 exhibited latent central conduction dysfunction. All patients carried the same mutation in (c.1214 G>A [p.R405Q]). CTX is a treatable neurodegenerative disorder; however, our results revealed that patients with CTX in Korea might receive the diagnosis after a prolonged delay.    .
ISSN:1355-4794
1465-3656
1362-4970
DOI:10.1080/13554794.2023.2176777