Objective: To investigate the prevalence of psychiatric manifestations in Huntington’s disease (HD) and examine their association with functional disease stages.

Background: HD is an autosomal dominant neurodegenerative disorder characterized by motor, cognitive, and psychiatric manifestations. Although motor symptoms are traditionally considered the clinical hallmark, neuropsychiatric disturbances frequently emerge early in the disease course and may substantially contribute to functional decline. However, their relationship with functional staging remains incompletely characterized in Latin American populations.

Method: This cross-sectional observational study included 55 patients with genetically confirmed HD followed at a specialized movement disorders center in Brazil. Participants underwent standardized clinical and psychiatric assessment using the Unified Huntington’s Disease Rating Scale (UHDRS), Beck Depression Inventory (BDI), Hamilton Depression Rating Scale (HAM-D), Neuropsychiatric Interview (MINI), and Columbia-Suicide Severity Rating Scale (C-SSRS). Associations between psychiatric manifestations and functional stages were analyzed using chi-square tests with Bonferroni correction.

Results: The sample included 55 participants (median age 48 years), predominantly in early to intermediate functional stages (I-II: 67.2%). Major depressive disorder was present in 50.9% of participants, and depressive symptoms were identified in up to 58.2% according to HAM-D. Psychiatric manifestations were observed across all disease stages. Depressive symptoms assessed both dimensionally and categorically showed significant association with worse functional stage, including BDI (p=0.026), HAM-D (p=0.009), and diagnosis of major depressive disorder (p=0.011).

Conclusion: Depressive symptoms are highly prevalent in HD and show significant association with functional impairment across disease stages. These findings support the concept that neuropsychiatric manifestations represent central components of the HD clinical phenotype and highlight the importance of systematic psychiatric evaluation in the multidisciplinary management of the disease.

References: BATES, G. P.; DORSEY, R.; GUSELLA, J. F.; et al. Huntington disease. Nature Reviews Disease Primers, v. 1, p. 15005, 2015. DOI: 10.1038/nrdp.2015.5;

MARTINEZ-HORTA, S.; PEREZ-PEREZ, J.; VAN DUIJN, E.; et al. Neuropsychiatric symptoms are very common in premanifest and early stage Huntington’s disease. Parkinsonism & Related Disorders, v. 25, p. 58–64, 2016. DOI: 10.1016/j.parkreldis.2016.02.008;

MCALLISTER, B.; GUSELLA, J. F.; LANDWEHRMEYER, G. B.; et al. Timing and impact of psychiatric, cognitive, and motor abnormalities in Huntington’s disease. Neurology, v. 96, n. 19, p. e2395–e2406, 2021. DOI: 10.1212/WNL.0000000000011893.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/depressive-symptoms-and-functional-impairment-in-huntingtons-disease-a-brazilian-cohort-study/