title: Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation.
abstract: 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.
authors.affiliation: Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK.
authors.forename: Choong Yi
authors.initials: CY
authors.lastname: Fong
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.forename: Thomas
authors.initials: T
authors.lastname: Schwarzbraun
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Finbar J K
authors.initials: FJ
authors.lastname: O'Callaghan
mesh_terms: D002648:Child; D016368:Frameshift Mutation / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D020734:Parkinsonian Disorders / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism*; D006180:Proton-Translocating ATPases / Q000172:deficiency* / Q000235:genetics*; D012720:Severity of Illness Index
chemical_list: C514983:ATP13A2 protein, human; D006180:Proton-Translocating ATPases