ATP13A2 variants in early-onset Parkinson's disease patients and controls
Author
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Djarmati, Ana
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Hagenah, Johann
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Reetz, Kathrin
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Winkler, Susen
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Behrens Pellegrino, María Isabel
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Pawlack, Heike
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Lohmann, Katja
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Ramirez, Alfredo
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Tadić, Vera
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Brüggemann, Norbert
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Berg, Daniela
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Siebner, Hartwig R.
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Lang, Anthony E.
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Pramstaller, Peter P.
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Binkofski, Ferdinand
Author
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Admission date
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2019-03-11T12:58:24Z
Available date
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2019-03-11T12:58:24Z
Publication date
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2009
Cita de ítem
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Movement Disorders, Volumen 24, Issue 14, 2018, Pages 2104-2111
Identifier
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15318257
Identifier
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08853185
Identifier
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10.1002/mds.22728
Identifier
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https://repositorio.uchile.cl/handle/2250/164891
Abstract
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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 -