Movement Disorders in Spinocerebellar Ataxias in a Cohort of Brazilian Patients

作者：Moro Adriana; Munhoz Renato P; Moscovich Mariana; Arruda Walter O; Raskin Salmo; Teive Helio A G^*

来源：European Neurology, 2014, 72(5-6): 360-362.

DOI：10.1159/000365285

• Movement disorders
• Spinocerebellar ataxias
• Dystonia
• Myoclonus
• Parkinsonism
• Chorea

Background: Movement disorders (MDs) are well recognized in all subtypes of spinocerebellar ataxias (SCA), but phenomenology and frequency vary widely. Methods: Three hundred seventy-eight patients, from 169 Brazilian families, with SCAs were assessed with neurological examination and molecular genetic testing. Results: Dystonia was the most common movement disorder, found in 5.5% of all patients, particularly in SCA3. We observed Parkinsonian features in 6.6% of SCA3 patients, and myoclonus in two patients of our cohort. Conclusions: Our study demonstrated that MDs are major extracerebellar manifestations of SCA. The observed phenotypes in addition to ataxia may provide significant clues for a particular SCA genotype.

• 出版日期2014