Work

Huntington’s disease: Characterization and survival analysis of a patient series in northern Brazil

Year: 2026
Type: article
Study design: Observational Study
Abstract: Introduction: Huntington’s disease (HD) is a neurodegenerative condition characterized by motor, cognitive, and psychiatric dysfunctions. Materials and methods: A retrospective cohort study including 14 participants treated at a private neurology clinic from 2003 to 2023 in Santarém, Pará, Brazil. Results: The mean age at diagnosis was 43.5 ± 6.5 years. Motor manifestations were the most prevalent, particularly chorea (92.86%). The mortality rate during the study period was 21.42%, and 92.86% of patients progressed to dementia, with 76.9% presenting with early-onset dementia. No correlations were found between the variables studied and the development of early-onset demen­tia. Discussion: Although this is a small sample followed over a twenty-year period, establishing cau­sal relationships is subject to limitations, and the generalizability of the results remains restricted. Nevertheless, these findings remain valid, particularly in the northern region of Brazil, where access to genetic testing remains limited, potentially contributing to underreporting and masking of inheri­tance patterns or atypical variants. Conclusion: The study revealed findings both consistent with and divergent from those reported in the literature, highlighting a unique disease profile in this region.
Language: English
Open Access status: diamond
OpenAlex ID: W7197042958
FWCI: 1.432
Cites: 18
Cited by: 1
Related to: 10