A Woman with Progressive Ataxia and Abnormal Eye Movements

Abstract

A 28-year-old woman presented with progressive gait ataxia and speech impairment that started 7 years ago. Parents were nonconsanguineous and family history was unremarkable. During the last 2 years, she developed sialorrhea and dysphagia. Recently, she was diagnosed with depression, and her cognition was mildly impaired. She did not have organomegaly, nor sleep disorders, and the magnetic resonance imaging (MRI) showed mildly enlarged ventricles. Neurological examination disclosed dysarthria, axial and appendicular cerebellar ataxia, neck and truncal dystonia with left tilt, reduced arm swing on the left, and abnormal ocular movements (Video 1).