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ATP13A2 variants in early‐onset Parkinson's disease patients and controls |
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| Authors: | Ana Djarmati PhD Johann Hagenah MD Kathrin Reetz MD Susen Winkler BS Maria Isabel Behrens MD Heike Pawlack BS Katja Lohmann PhD Alfredo Ramirez PhD Vera Tadić MD Norbert Brüggemann MD Daniela Berg MD Hartwig R Siebner MD Anthony E Lang MD Peter P Pramstaller MD Ferdinand Binkofski MD Vladimir S Kostić MD Jens Volkmann MD Thomas Gasser MD Christine Klein MD |
| Institution: | 1. Department of Neurology, University of Lübeck, Lübeck, Germany;2. Department of Human Genetics, University of Lübeck, Lübeck, Germany;3. Department of Neurology and Neurosurgery, Hospital Clínico, University of Chile, Santiago, Chile;4. Institute of Human Genetics, University of Cologne, Cologne, Germany;5. Institute for Genetics, University of Cologne, Cologne, Germany;6. Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany;7. Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany;8. Department of Neurology, Christian‐Albrechts University, Kiel, Germany;9. Movement Disorders Centre, Toronto Western Hospital, Toronto, Canada;10. Department of Neurology, Central Hospital, European Academy‐Research, Bolzano‐Bozen, Italy;11. Institute of Genetic Medicine, European Academy‐Research, Bolzano‐Bozen, Italy;12. Institute of Neurology CCS, Belgrade, Serbia |
| 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. © 2009 Movement Disorder Society |
| Keywords: | Parkinson's disease ATP13A2 heterozygous changes neuroimaging |