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Journal of Pediatric Neurology 2009; 07(02): 171-173
DOI: 10.3233/JPN-2009-0279
Case Report
Georg Thieme Verlag KG Stuttgart – New York

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

Bart Post
a   Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands
,
Laurie J. Ozelius
b   Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, USA
,
Marina A.J. Tijssen
a   Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands
› Author Affiliations
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Further Information

Publication History

18 June 2008

26 August 2008

Publication Date:
30 July 2015 (online)

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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.

Keywords

Dystonia - parkinsonism - ATP1A3-gene