Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients

摘要: Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according predominantly affected systems. Method The series comprises 167 SCA3 patients belonging 68 pedigrees, studied from 1989-2013. These were categorized seven subphenotypes. Results cases clustered predominant features. Three most common forms subphenotype 2, characterized by pyramidal symptom was observed in 67.5%, peripheral signs 13.3%, 6 pure cerebellar syndrome 7.2%. Conclusion Our study first systematically This classification may be particularly useful for determination of a more specific direct phenotype/genotype correlation future studies.