Juvenile rapid-onset dystonia parkinsonism due to a 'de novo' mutation in the ATP1A3 gene

Abstract

We report the first juvenile patient with rapid onset dystonia parkinsonism with a 'de novo' mutation in the ATP1A3 gene. Dystonia developed abrupt on the left side of the body at the age of 9, a secondary acute worsening caused prominent dysarthria at the age of 15. A 'de novo' T613M missense mutation in the ATP1A3 gene was found. We conclude that rapid onset dystonia parkinsonism should be considered in patients with acute dysarthria and acute hemidystonia without evidence of structural or vascular abnormalities on magnetic resonance imaging, even in the absence of a positive family history.