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Clinical and genetic characteristics in patients with Huntington's disease from China
Jing Yang1, Ke Chen1, Qianqian Wei1
1a Department of Neurology, West China Hospital , Sichuan University , Chengdu , China.
Insights
This study analyzed 58 Chinese Huntington's disease (HD) patients, finding CAG repeat numbers correlate with earlier onset and more severe behavioral issues. Demographic data align with global HD populations.
Area of Science:
- Neurogenetics
- Neurology
- Clinical Genetics
Background:
- Huntington's disease (HD) is a neurodegenerative disorder characterized by CAG repeat expansion in the HTT gene.
- Limited data exists on HD demographics and clinical features within the Chinese population.
Purpose of the Study:
- To investigate the demographic, clinical, and genetic characteristics of Huntington's disease patients in China.
- To explore correlations between CAG repeat length, age at onset, and behavioral symptoms in Chinese HD patients.
Main Methods:
- Recruitment of 58 consecutive Huntington's disease patients in China.
- Assessment using the Unified Huntington's Disease Rating Scale (UHDRS) motor and behavioral sections (UHDRS-b).
- Conducting genetic analyses to determine CAG triplet repeat numbers.
Main Results:
- The study included 33 women and 25 men with a mean age of 46.1 years and mean CAG repeats of 44.6.
- CAG repeat number negatively correlated with age at onset and positively with UHDRS-b scores (behavioral symptoms).
- Age at onset negatively correlated with UHDRS-b scores, while disease duration correlated with motor scores and anxiety.
Conclusions:
- Chinese HD patient demographics are comparable to other ethnic groups.
- CAG repeat number is a predictor of both age of onset and behavioral problem severity in HD.
- This study provides the largest dataset of Chinese HD patients with demographic, clinical, and genetic information.
Abstract:
Huntington's disease (HD) is a neurodegenerative disease caused by the expansion of unstable CAG repeats in the HTT gene. There are scarce data about HD in China. Fifty-eight HD patients were consecutively recruited and assessed using the Unified HD Rating Scale (UHDRS) motor section and UHDRS behaviour assessment (UHDRS-b). Genetic analyses were also conducted. Thirty-three women and Twenty -five men were diagnosed with a mean age of 46.1 ± 11.2 years and a mean number of CAG triplet repeats 44.6 ± 4.4. CAG triplet repeat number was negatively correlated with age at onset, and positively correlated with UHDRS-b total score, and its subdomains including depressed mood, low self-esteem, anxiety and irritability. On the other hand, negative correlations were identified between age at onset and UHDRS-b total score, and its subdomains include low self-esteem, anxiety, suicidal thought, irritability and apathy. Disease durations were correlated with UHDRS motor scores and anxiety domain of UHDRS-b. This is the largest series of Chinese HD patients with demographic, clinical and genetic data confirms the demographic features of Chinese HD patients are comparable to those in other ethnic backgrounds. CAG triplet repeat number may also predict the severity of behaviour problems in HD patients besides its predication for age of onset.
