title: ATP13A2 variants in early-onset Parkinson's disease patients and controls.
abstract: Four genes responsible for recessively inherited forms of Parkinson's disease (PD) have been identified, including the recently discovered ATP13A2 (PARK9) gene. Our objective was to investigate the role of this gene in a large cohort of PD patients and controls. We extensively screened all 29 exons of the ATP13A2 coding region in 112 patients with early-onset PD (EOPD; <40 years) of mostly European ethnic origin and of 55 controls. We identified four carriers (3.6%) of novel single heterozygous ATP13A2 missense changes that were absent in controls. Interestingly, the carrier of one of these variants also harbored two mutations in the Parkin gene. None of the carriers had atypical features previously described in patients with two mutated ATP13A2 alleles (Kufor-Rakeb syndrome). Our data suggest that two mutated ATP13A2 alleles are not a common cause of PD. Although heterozygous variants are present in a considerable number of patients, they are-based on this relatively small sample-not significantly more frequent in patients compared to controls.
authors.affiliation: Department of Neurology, University of Lübeck, Lübeck, Germany.
authors.forename: Ana
authors.initials: A
authors.lastname: Djarmati
authors.forename: Johann
authors.initials: J
authors.lastname: Hagenah
authors.forename: Kathrin
authors.initials: K
authors.lastname: Reetz
authors.forename: Susen
authors.initials: S
authors.lastname: Winkler
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Behrens
authors.forename: Heike
authors.initials: H
authors.lastname: Pawlack
authors.forename: Katja
authors.initials: K
authors.lastname: Lohmann
authors.forename: Alfredo
authors.initials: A
authors.lastname: Ramirez
authors.forename: Vera
authors.initials: V
authors.lastname: Tadić
authors.forename: Norbert
authors.initials: N
authors.lastname: Brüggemann
authors.forename: Daniela
authors.initials: D
authors.lastname: Berg
authors.forename: Hartwig R
authors.initials: HR
authors.lastname: Siebner
authors.forename: Anthony E
authors.initials: AE
authors.lastname: Lang
authors.forename: Peter P
authors.initials: PP
authors.lastname: Pramstaller
authors.forename: Ferdinand
authors.initials: F
authors.lastname: Binkofski
authors.forename: Vladimir S
authors.initials: VS
authors.lastname: Kostić
authors.forename: Jens
authors.initials: J
authors.lastname: Volkmann
authors.forename: Thomas
authors.initials: T
authors.lastname: Gasser
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008636:Mesencephalon / Q000000981:diagnostic imaging; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D006180:Proton-Translocating ATPases / Q000235:genetics*; D014463:Ultrasonography; D044465:White People; D055815:Young Adult
chemical_list: C514983:ATP13A2 protein, human; D006180:Proton-Translocating ATPases