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

IF 0.6 4区医学 Q4 CLINICAL NEUROLOGY

Neurocase Pub Date : 2022-12-01 DOI:10.1080/13554794.2023.2176777

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

引用次数: 0

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. .

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韩国脑腱黄瘤病的临床、电生理和遗传特征。

脑腱黄瘤病(CTX)是由27-羟化酶缺乏引起的常染色体隐性脂质储存疾病。我们报告六名韩国CTX患者的临床特征。发病年龄中位数为22.5岁，诊断年龄中位数为42岁，诊断延迟18.1年。最常见的临床症状是肌腱黄瘤和痉挛性截瘫。5例患者中有4例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，我们的研究结果显示，韩国的CTX患者可能在较长时间后才得到诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurocase 医学-精神病学

CiteScore

1.40

自引率

12.50%

发文量

审稿时长

6-12 weeks

期刊介绍： Neurocase is a rapid response journal of case studies and innovative group studies in neuropsychology, neuropsychiatry and behavioral neurology that speak to the neural basis of cognition. Four types of manuscript are considered for publication: single case investigations that bear directly on issues of relevance to theoretical issues or brain-behavior relationships; group studies of subjects with brain dysfunction that address issues relevant to the understanding of human cognition; reviews of important topics in the domains of neuropsychology, neuropsychiatry and behavioral neurology; and brief reports (up to 2500 words) that replicate previous reports dealing with issues of considerable significance. Of particular interest are investigations that include precise anatomical localization of lesions or neural activity via imaging or other techniques, as well as studies of patients with neurodegenerative diseases, since these diseases are becoming more common as our population ages. Topic reviews are included in most issues.