Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization

We characterized a novel clinical constellation in an SCA8-associated familial parkinsonism pedigree: Parkinson's disease -like phenotype with spastic paraplegia and levodopa responsive parkinsonism with dystonia. We report the first documented occurrence of Tourette syndrome in the pre-ataxic stage of SCA3, though it is more likely a coincidental comorbidity independent of SCA3 progression. Furthermore, our findings indicate that SCA subtypes presenting with movement disorder-dominant phenotypes are likely underestimated in clinical practice.