ATP13A2 variants in early-onset Parkinson's disease patients and controls
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ATP13A2 variants in early-onset Parkinson's disease patients and controls. / Djarmati, Ana; Hagenah, Johann; Reetz, Kathrin; Winkler, Susen; Behrens, Maria Isabel; Pawlack, Heike; Lohmann, Katja; Ramirez, Alfredo; Tadic, Vera; Brüggemann, Norbert; Berg, Daniela; Siebner, Hartwig R; Lang, Anthony E; Pramstaller, Peter P; Binkofski, Ferdinand; Kostic, Vladimir S; Volkmann, Jens; Gasser, Thomas; Klein, Christine.
In: Movement Disorders, Vol. 24, No. 14, 2009, p. 2104-11.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - ATP13A2 variants in early-onset Parkinson's disease patients and controls
AU - Djarmati, Ana
AU - Hagenah, Johann
AU - Reetz, Kathrin
AU - Winkler, Susen
AU - Behrens, Maria Isabel
AU - Pawlack, Heike
AU - Lohmann, Katja
AU - Ramirez, Alfredo
AU - Tadic, Vera
AU - Brüggemann, Norbert
AU - Berg, Daniela
AU - Siebner, Hartwig R
AU - Lang, Anthony E
AU - Pramstaller, Peter P
AU - Binkofski, Ferdinand
AU - Kostic, Vladimir S
AU - Volkmann, Jens
AU - Gasser, Thomas
AU - Klein, Christine
N1 - Keywords: Adolescent; Adult; Age of Onset; Child; DNA Mutational Analysis; European Continental Ancestry Group; Exons; Female; Gene Frequency; Genetic Variation; Humans; Male; Mesencephalon; Parkinson Disease; Proton-Translocating ATPases; Young Adult
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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.
U2 - 10.1002/mds.22728
DO - 10.1002/mds.22728
M3 - Journal article
C2 - 19705361
VL - 24
SP - 2104
EP - 2111
JO - Movement Disorders
JF - Movement Disorders
SN - 0885-3185
IS - 14
ER -
ID: 21454496