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.

摘要

脑腱黄瘤病 (CTX) 是一种由 27-羟化酶缺乏引起的常染色体隐性脂质贮积症。我们报告了 6 名韩国 CTX 患者的临床特征。中位发病年龄为 22.5 岁，中位诊断年龄为 42 岁，诊断延迟为 18.1 岁。最常见的临床症状是肌腱黄色瘤和痉挛性截瘫。五名患者中有四名表现出潜在的中枢传导功能障碍。所有患者都携带相同的CYP27A1突变(c.1214 G>A [p.R405Q])。CTX 是一种可治疗的神经退行性疾病；然而，我们的结果显示，韩国的 CTX 患者可能会在长时间延迟后得到诊断。