Dados do Trabalho

Título

Clinical and genetic analysis of a population with Huntington's Disease in Amazonas.

Resumo

Introduction: Huntington's disease (HD) is a hereditary neurodegenerative disorder. The epidemiology of HD is still lacking in information covering all regions of Brazil. The first publication, bringing genetic aspects of 33 patients from 16 families with HD in Amazonas (AM), was published by our research group in 2020 (BRITO, 2020). These initial data showed that the incidence of HD in BF and the specific clinical aspects of this population should be better studied and included in the Brazilian series.

Objectives: To analyze HD's prevalence, phenotypic and genotypic profile in a reference center for movement disorders in the North region of Brazil. Identify possible HD transmission clusters due to geographic characteristics. Describe the phenotypic characteristics of the population and correlate them with the genotypic findings.

Method: prospective observational study with analysis of patients seen at a referral center. Genetic testing for Huntington's disease and clinical follow-up of patients and family groups.

Results: The results presented here correspond to 55 patients with suspected HD, 38 of which were effectively genetically tested and included in this analysis. Distribution by sex was 50% (19 H and 19 F). The mean age of symptom onset was 33 years (7 to 62 years), with a mean size of the expansions found at 48 repetitions (39 to 84). There was a positive correlation (r= 0.8) between the size of the expansions and the age onset of motor manifestations. Parkinsonism was a frequent manifestation (79%), moderate to severe in 65% of cases. Chorea was found in 60% of patients, moderate to severe in 50%.

Conclusion: Although considered a rare disease, an initial survey detected 19 families with Huntington's disease in Amazonas, with great phenotypic and genotypic variability. The continuity of the study should bring comprehensive epidemiological data on the presence of clusters of the disease in the Brazilian Amazon region.

Palavras Chave

Huntington's disease, Amazon region.