ATP13A2 variants in early-onset Parkinson's disease patients and controls

Ana Djarmati; Johann Hagenah; Kathrin Reetz; Susen Winkler; Maria Isabel Behrens; Heike Pawlack; Katja Lohmann; Alfredo Ramirez; Vera Tadic; Norbert Brüggemann; Daniela Berg; Hartwig R Siebner; Anthony E Lang; Peter P Pramstaller; Ferdinand Binkofski; Vladimir S Kostic; Jens Volkmann; Thomas Gasser; Christine Klein

doi:10.1002/mds.22728

ATP13A2 variants in early-onset Parkinson's disease patients and controls

Ana Djarmati, Johann Hagenah, Kathrin Reetz, Susen Winkler, Maria Isabel Behrens, Heike Pawlack, Katja Lohmann, Alfredo Ramirez, Vera Tadic, Norbert Brüggemann, Daniela Berg, Hartwig R Siebner, Anthony E Lang, Peter P Pramstaller, Ferdinand Binkofski, Vladimir S Kostic, Jens Volkmann, Thomas Gasser, Christine Klein

46 Citations (Scopus)

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.

Original language	English
Journal	Movement Disorders
Volume	24
Issue number	14
Pages (from-to)	2104-11
Number of pages	7
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.22728
Publication status	Published - 2009

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Djarmati, A., Hagenah, J., Reetz, K., Winkler, S., Behrens, M. I., Pawlack, H., Lohmann, K., Ramirez, A., Tadic, V., Brüggemann, N., Berg, D., Siebner, H. R., Lang, A. E., Pramstaller, P. P., Binkofski, F., Kostic, V. S., Volkmann, J., Gasser, T., & Klein, C. (2009). ATP13A2 variants in early-onset Parkinson's disease patients and controls. Movement Disorders, 24(14), 2104-11. https://doi.org/10.1002/mds.22728

Djarmati, A, Hagenah, J, Reetz, K, Winkler, S, Behrens, MI, Pawlack, H, Lohmann, K, Ramirez, A, Tadic, V, Brüggemann, N, Berg, D, Siebner, HR, Lang, AE, Pramstaller, PP, Binkofski, F, Kostic, VS, Volkmann, J, Gasser, T & Klein, C 2009, 'ATP13A2 variants in early-onset Parkinson's disease patients and controls', Movement Disorders, vol. 24, no. 14, pp. 2104-11. https://doi.org/10.1002/mds.22728

@article{8da9a060aab911df928f000ea68e967b,

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.",

author = "Ana Djarmati and Johann Hagenah and Kathrin Reetz and Susen Winkler and Behrens, {Maria Isabel} and Heike Pawlack and Katja Lohmann and Alfredo Ramirez and Vera Tadic and Norbert Br{\"u}ggemann and Daniela Berg and Siebner, {Hartwig R} and Lang, {Anthony E} and Pramstaller, {Peter P} and Ferdinand Binkofski and Kostic, {Vladimir S} and Jens Volkmann and Thomas Gasser and Christine Klein",

note = "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",

year = "2009",

doi = "10.1002/mds.22728",

language = "English",

volume = "24",

pages = "2104--11",

journal = "Movement Disorders",

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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

SN - 0885-3185

VL - 24

SP - 2104

EP - 2111

JO - Movement Disorders

JF - Movement Disorders

IS - 14

ER -

ATP13A2 variants in early-onset Parkinson's disease patients and controls

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