J Clin Neurol.
2024 Jul;20(4):394-401. 10.3988/jcn.2023.0329.
Clinical and Genetic Characteristics Associated With Survival Outcome in Late-Onset Huntington’s Disease in South Korea
- Affiliations
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- 1Department of Neurology, Jeonbuk National University Medical School and Hospital, Jeonju, Korea
- 2Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju, Korea
- 3Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
- 4Medical Genetic Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
- 5Department of Neurology, Seoul Metropolitan Government-Seoul National University Boramae Medical Center, Seoul National University Medical College, Seoul, Korea
- 6Department of Neurology, Kyungpook National University Hospital, Daegu, Korea
- 7Department of Neurology, Chungnam National University Hospital, Daejeon, Korea
- 8Department of Neurology, Kangwon National University Hospital, Chuncheon, Korea
- 9Department of Neurology, Wonkwang University School of Medicine, Iksan, Korea
- KMID: 2556900
- DOI: http://doi.org/10.3988/jcn.2023.0329
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, pp=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.
