Article
Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2011
Fong Choong Yi, Rolfs Arndt, Schwarzbraun Thomas, Klein Christine, O'Callaghan Finbar J K
Abstract excerpt
We report a case of levodopa-responsive juvenile parkinsonism (JP) associated with a heterozygous ATP13A2 gene frameshift mutation. The clinical phenotype of our case is more severe when compared with other published reports of symptomatic heterozygous ATP13A2 mutation carriers. To our knowledge, this is the youngest reported patient with JP associated with a heterozygous ATP13A2 mutation. Our findings expand the...
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