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Clinical aspects of spinocerebellar ataxia in the state of Amazonas

Resumo

Introduction: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative hereditary diseases, with an autosomal dominant pattern. The prevalence of SCAs subtypes is variable among geographic regions and ethnicities. In Brazil, the occurrence of the main subtypes was studied mainly in the Southern and Southeastern regions. However, considering the ethnic diversity among Brazilian regions, those findings cannot be generalized. Thus, this study aimed to investigate and clinically characterize cases of SCAs in the state of Amazonas.
Method: Research participants were recruited at the reference center for movement disorders in Manaus-AM. Genetic tests for SCAs 2, 3, 6, and 7 were performed.
Results: Of 21 participants, nine were genetically confirmed: two families (N=5) were diagnosed with SCA 3; one family (N=3), with SCA 2; and one patient with SCA 7. In one of the SCA 3 families, symptoms were predominantly cerebellar: gait ataxia, dysarthria, hypotonia, and nystagmus. Pyramidal signs (hyperreflexia) and peripheral neuropathy were also observed. In the other SCA 3 family, cerebellar signs of gait ataxia and dysarthria were associated with peripheral neuropathy, cognitive dysfunctions (memory loss), and psychiatric disorders (irritability and depression). The SCA 2 family was clinically characterized by ataxia (more severe gait, but also appendicular and axial), movement decomposition, and dysarthria in association with slow saccades and mild bradykinesia. Lastly, the patient diagnosed with SCA 7 showed a condition of mild cerebellar signs (gait ataxia, hypermetria, and dysarthria) and predominant symptoms of loss of visual acuity, ophthalmoparesis, bilateral ptosis, and facial hypomimia. Pyramidal signs (hyperreflexia), distal atrophy, and tongue fasciculations were also observed.
Conclusion: The research demonstrated the presence of families with SCA2, SCA3 and SCA7 in Amazonas. New data will be added with testing for SCA10. So far, we have been able to detect a low incidence of families with SCAs in the state of Amazonas, compared to other Brazilian studies.

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