Objective: To investigate the genetic characteristics and long-term outcome of Korean patients with Huntington’s disease.

Background: Huntington’s disease is an autosomal dominant neurodegenerative disease, which results from abnormal expansion of CAG triplets. Huntington’s disease presents with motor symptoms of chorea and other abnormal involuntary movements, and non-motor symptoms of cognitive impairment and other neuropsychiatric symptoms. There has been limited information of ethnicity-specific genetic features and outcomes of Korean patients with Huntington’s disease.

Method: We retrospectively analyzed 43 patients with Huntington’s disease, who were genetically confirmed based on abnormal CAG triplet expansion between year 2000 to 2020. All patients were ethnically Korean. Genetic features and possible prognostic factors, including demographic features, basic CAG repeat characteristics, affected parents, and time to death were analyzed using Cox-regression models. Pearson’s correlation coefficient was used to analyze the correlation between mutant CAG repeat length and age of onset. And independent T-test was used for comparisons of subgroups between paternal and maternal inheritance.

Results: Mean mutant CAG repeat length was 44.36 ± 3.31 (range, 38 – 55). Mean age at onset of Huntington’s disease was 49.21 ± 12.71 years and the age at onset was negatively associated with CAG repeat length (Pearson’s correlation coefficient, P < 0.001, r = -0.698). In comparison of subgroups between paternal and maternal inheritance, patients with maternal inheritance (mean age: 40.9) showed earlier onset of disease than patients with paternal inheritance (mean age: 50.39), which was statistically significant (P = 0.007). During time period between 2000 – 2020, 23 patients deceased. In Cox regression analysis, patients with longer mutant CAG repeat length showed substantially higher risk of death (HR = 1.302, P = 0.020) than patients with shorter mutant CAG repeat length.

Conclusion: Our study results showed that Korean Huntington’s disease patients with maternal inheritance and longer mutant CAG repeat showed earlier onset and longer CAG repeat length are related to higher mortality.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/genetic-features-and-long-term-outcome-of-korean-patients-with-huntingtons-disease/