1. Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

Prof. Choong Yi Fong, MD 1 Prof. Arndt Rolfs, MD 2, 3 Thomas Schwarzbraun, MD 2 Prof. Christine Klein, MD 4 Finbar JK O’Callaghan, PhD 1, 5
1 Bristol Royal Hospital for Children 2 CENTOGENE AG 3 University of Rostock 4 University of Luebeck 5 University of Bristol
January 04, 2011

Eur J Paediatr Neurol. 2011 May;15(3):271-5

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 clinical phenotypic spectrum of JP associated with heterozygous ATP13A2 mutation.