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Dear Colleagues,

Huntington’s disease (HD) experience progressive motor, cognitive and neuropsychiatric symptoms that lead to a devastating loss of functional independence. However, there is substantial heterogeneity across HD patients regarding the longitudinal evolution of these symptoms. Some of them show cognitive predominance, others neuropsychiatric, and some of them will only experience motor symptoms until a late disease stage. Being able to characterize and predict this clinical heterogeneity is crucial to optimize treatment strategies. For that, neuroimaging and biomarker research is needed to better understand the origin of these divergent phenotypes. This issue will focus on delineating the set of clinical, neuroimaging and biomarker profiles of HD patients. Moreover, we will aim to provide practical tools to classify HD patients in clinical trials targeting both motor and non-motor symptoms.

Dr. Frederic Sampedro
Guest Editor

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Keywords

Huntington’s disease
Non-motor symptoms
Neuroimaging
Biomarkers
Phenotype heterogeneity

Published Papers (1 paper)

Research

Open AccessArticle

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

and

J. Clin. Med. 2023, 12(1), 206; https://doi.org/10.3390/jcm12010206 - 27 Dec 2022

Viewed by 551

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. Full article

(This article belongs to the Special Issue Disentangling Clinical and Biological Heterogeneity in Huntington’s Disease: Implications for Clinical Trials)

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