The Comprehensive Analysis of Motor and Neuropsychiatric Symptoms in Patients with Huntington’s Disease from China: A Cross-Sectional Study

Abstract

Huntington’s disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG repeats expansion. There is a paucity of comprehensive clinical analysis in Chinese HD patients due to the low prevalence of HD in Asia. We aimed to comprehensively describe the motor, neuropsychiatric symptoms, and functional assessment in patients with HD from China. A total of 205 HD patients were assessed by the Unified Huntington’s Disease Rating Scale (UHDRS), the short version of Problem-Behavior Assessment (PBA-s), Hamilton Depression Scale (HAMD) and Beck Depression Inventory (BDI). Multivariate logistic regression analysis was used to explore the independent variables correlated with neuropsychiatric subscales. The mean age of motor symptom onset was 41.8 ± 10.0 years old with a diagnostic delay of 4.3 ± 3.8 years and a median CAG repeats of 44. The patients with a positive family history had a younger onset and larger CAG expansion than the patients without a family history (p < 0.05). There was a significant increase in total motor score across disease stages (p < 0.0001). Depression (51%) was the most common neuropsychiatric symptom at all stages, whereas moderate to severe apathy commonly occurred in advanced HD stages. We found lower functional capacity and higher HAMD were independently correlated with irritability; higher HAMD and higher BDI were independently correlated with affect; male sex and higher HAMD were independently correlated with apathy. In summary, comprehensive clinical profile analysis of Chinese HD patients showed not only chorea-like movement, but psychiatric symptoms were outstanding problems and need to be detected early. Our study provides the basis to guide clinical practice, especially in practical diagnostic and management processes.

The characteristic and prognostic role of blood inflammatory markers in patients with Huntington’s disease from China

“…In this study, 92 individuals with gene-confirmed HD were recruited between March 2009 and November 2023 in the Department of Neurology at West China Hospital of Sichuan University (Chengdu, China). The participants in this study were from the same cohort as the previous study ( 3 , 26 ). The study received approval from the Institutional Ethics Committee of West China Hospital, Sichuan University, China.…”

“…An abnormal amplification of CAG causes HD repeats in exon 1 of the Huntingtin ( HTT ) gene, located on chromosome 4 ( 1 ). It usually begins to manifest in mid-adulthood and lasts for about 15–20 years ( 2 , 3 ). To date, there are no effective disease-modifying therapies, imposing a heavy economic burden on families and society which increases as the disease progresses ( 4 ).…”

Factors influencing cognitive function in patients with Huntington's disease from China: A cross‐sectional clinical study

“…The UHDRS–total motor score (TMS) and the total functional capacity (TFC) score (Shoulson et al., 1989) were used to assess the motor symptom and to quantify a patient's ability to perform basic and instrumental activities of daily living as described previously (Cheng et al., 2022). Participants were divided into two groups, which were sever motor symptom (TMS score more than mean score) and mild motor symptom (TMS score less than mean score).…”

“…from the Department of Neurology of West China Hospital. The participants of this study was based on the same cohort as the previous study (Cheng et al, 2022).…”

Latest advances on new promising molecular-based therapeutic approaches for Huntington’s disease

“…HD gene carriers could remain unnoticed for several years before receiving a diagnosis. [ 8 ] Disease manifestations could begin at any time in life, although the majority of cases display evident onset in middle age. The length of the CAG repeats accounts for about 50%–70% of the overall variance in age of onset.…”