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

Abstract

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 CYP27A1 (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.    .

• Authors: Sunyoung Kim, Jin-Sung Park, Jae-Hyeok Lee, Ha-Young Shin, Hui-Jun Yang, Jin-Hong Shin
• Journal: Neurocase (Neurocase) Vol. 28 Issue 6 Pg. 477-482 (12 2022) ISSN: 1465-3656 [Electronic] England
• PMID: 36803198 (Publication Type: Journal Article)

Chemical References

• Cholestanetriol 26-Monooxygenase

Topics

• Adult
• Humans
• Young Adult
• Cholestanetriol 26-Monooxygenase (genetics)
• Delayed Diagnosis
• Mutation
• Republic of Korea
• Xanthomatosis, Cerebrotendinous (diagnosis, genetics)
• Electrophysiological Phenomena