Affiliations: Department of Neurology, Academic Medical Center,
Amsterdam, The Netherlands | Department of Genetics and Genomic Sciences, Mount
Sinai School of Medicine, New York, USA
Note: [] Correspondence: Bart Post, MD, Department of Neurology H2-222,
Academic Medical Center, P.O. Box 22660, 1100 DD Amsterdam, the Netherlands.
Tel.: +31 20 5663842; Fax: +31 20 6971438; E-mail: [email protected]
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.
