ATP13A2 variants in early-onset Parkinson's disease patients and controls.
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.
Djarmati
Ana
A
Department of Neurology, University of Lübeck, Lübeck, Germany.
Hagenah
Johann
J
Reetz
Kathrin
K
Winkler
Susen
S
Behrens
Maria Isabel
MI
Pawlack
Heike
H
Lohmann
Katja
K
Ramirez
Alfredo
A
Tadić
Vera
V
Brüggemann
Norbert
N
Berg
Daniela
D
Siebner
Hartwig R
HR
Lang
Anthony E
AE
Pramstaller
Peter P
PP
Binkofski
Ferdinand
F
Kostić
Vladimir S
VS
Volkmann
Jens
J
Gasser
Thomas
T
Klein
Christine
C
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
C514983:ATP13A2 protein, human; D006180:Proton-Translocating ATPases