Clinical and Genetic Characteristics Associated With Survival Outcome in Late-Onset Huntington's Disease in South Korea.

IF 2.9 3区医学 Q2 CLINICAL NEUROLOGY

Journal of Clinical Neurology Pub Date : 2024-04-02 DOI:10.3988/jcn.2023.0329

Yun Su Hwang, S. Jo, Gu-Hwan Kim, J. Lee, Ho-Sung Ryu, Eungseok Oh, Seung-Hwan Lee, Young Seo Kim, S. Chung

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Abstract

BACKGROUND AND PURPOSE The onset of Huntington's disease (HD) usually occurs before the age of 50 years, and the median survival time from onset is 15 years. We investigated survival in patients with late-onset HD (LoHD) (age at onset ≥60 years) and the associations of the number of mutant CAG repeats and age at onset (AAO) with survival in patients with HD. METHODS Patients with genetically confirmed HD at six referral centers in South Korea between 2000 and 2020 were analyzed retrospectively. Baseline demographic, clinical, and genetic characteristics and the survival status as at December 2020 were collected. RESULTS Eighty-seven patients were included, comprising 26 with LoHD (AAO=68.77±5.91 years, mean±standard deviation; 40.54±1.53 mutant CAG repeats) and 61 with common-onset HD (CoHD) (AAO=44.12±8.61 years, 44.72±4.27 mutant CAG repeats). The ages at death were 77.78±7.46 and 53.72±10.86 years in patients with LoHD and CoHD, respectively (p<0.001). The estimated survival time was 15.21±2.49 years for all HD patients, and 10.74±1.95 and 16.15±2.82 years in patients with LoHD and CoHD, respectively. More mutant CAG repeats and higher AAO were associated with shorter survival (hazard ratio [HR]=1.05, 95% confidence interval [CI]=1.01-1.09, p=0.019; and HR=1.17, 95% CI=1.03-1.31, p=0.013; respectively) for all HD patients. The LoHD group showed no significant factors associated with survival after disease onset, whereas the number of mutant CAG repeats had a significant effect (HR=1.12, 95% CI=1.01-1.23, p=0.034) in the CoHD group. CONCLUSIONS Survival after disease onset was shorter in patients with LoHD than in those with CoHD. More mutant CAG repeats and higher AAO were associated with shorter survival in patients with HD.

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与韩国晚期亨廷顿氏症患者生存结果相关的临床和遗传特征。

背景和目的亨廷顿氏病（Huntington's disease，HD）通常在 50 岁之前发病，发病后的中位生存时间为 15 年。我们调查了晚发 HD（LoHD）患者（发病年龄≥60 岁）的存活率，以及突变 CAG 重复序列数和发病年龄（AAO）与 HD 患者存活率的关系。方法回顾性分析了 2000 年至 2020 年期间在韩国六个转诊中心经基因确诊为 HD 的患者。结果共纳入 87 例患者，其中 26 例为 LoHD（AAO=68.77±5.91 岁，平均值±标准差；40.54±1.53 突变 CAG 重复序列），61 例为常发 HD（CoHD）（AAO=44.12±8.61 岁，44.72±4.27 突变 CAG 重复序列）。LoHD和CoHD患者的死亡年龄分别为（77.78±7.46）岁和（53.72±10.86）岁（P<0.001）。所有HD患者的估计生存时间为（15.21±2.49）年，LoHD和CoHD患者的估计生存时间分别为（10.74±1.95）年和（16.15±2.82）年。在所有HD患者中，更多的突变CAG重复序列和更高的AAO与更短的生存期相关（危险比[HR]=1.05，95%置信区间[CI]=1.01-1.09，p=0.019；HR=1.17，95%置信区间[CI]=1.03-1.31，p=0.013）。LoHD组患者发病后的存活率无明显相关因素，而在CoHD组，突变CAG重复序列的数量有明显影响（HR=1.12，95% CI=1.01-1.23，p=0.034）。突变CAG重复序列越多、AAO越高，HD患者的存活期越短。

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来源期刊

Journal of Clinical Neurology 医学-临床神经学

CiteScore

4.50

自引率

6.50%

发文量

审稿时长

>12 weeks

期刊介绍： The JCN aims to publish the cutting-edge research from around the world. The JCN covers clinical and translational research for physicians and researchers in the field of neurology. Encompassing the entire neurological diseases, our main focus is on the common disorders including stroke, epilepsy, Parkinson''s disease, dementia, multiple sclerosis, headache, and peripheral neuropathy. Any authors affiliated with an accredited biomedical institution may submit manuscripts of original articles, review articles, and letters to the editor. The JCN will allow clinical neurologists to enrich their knowledge of patient management, education, and clinical or experimental research, and hence their professionalism.