Teaching NeuroImages: Spinocerebellar ataxia type 3 presenting with a cock-walk gait phenotype

A 22-year-old woman presented with a 4-year history of progressive gait disturbance and slurred speech. Examination disclosed ataxia, nystagmus, pyramidal signs, bradykinesia, and feet dystonia with a cock-walk gait pattern (video at Neurology.org). There was no weakness of ankle dorsiflexion or plantar flexion. Family history was remarkable for ataxia. MRI showed mild pontocerebellar atrophy (figure). Genetic testing confirmed spinocerebellar ataxia type 3 (SCA3; 34/77 alleles). There were poor responses to levodopa, anticholinergic drugs, and botulinum toxin.

Source: Neurology - October 9, 2017 Category: Neurology Authors: Rocha, E., Vale, T. C., Kok, F., Pedroso, J. L., Barsottini, O. G. Tags: Gait disorders/ataxia, Botulinum toxin, Basal ganglia RESIDENT AND FELLOW SECTION Source Type: research