ATP13A2 Variants in Early-Onset Parkinson's Disease Patients and Controls

被引：58

作者：

Djarmati, Ana ^{[1
,2
]}

Hagenah, Johann ^{[1
]}

Reetz, Kathrin ^{[1
]}

Winkler, Susen ^{[1
,2
]}

Behrens, Maria Isabel ^{[3
]}

Pawlack, Heike ^{[1
,2
]}

Lohmann, Katja ^{[1
,2
]}

Ramirez, Alfredo ^{[4
,5
,6
]}

Tadic, Vera ^{[1
]}

Brueggemann, Norbert ^{[1
]}

Berg, Daniela ^{[7
]}

Siebner, Hartwig R. ^{[8
]}

Lang, Anthony E. ^{[9
]}

Pramstaller, Peter P. ^{[10
,11
]}

Binkofski, Ferdinand ^{[1
]}

Kostic, Vladimir S. ^{[12
]}

Volkmann, Jens ^{[8
]}

Gasser, Thomas ^{[7
]}

Klein, Christine ^{[1
]}

机构：

[1] Med Univ Lubeck, Dept Neurol, D-23538 Lubeck, Germany

[2] Med Univ Lubeck, Dept Human Genet, D-23538 Lubeck, Germany

[3] Univ Chile, Hosp Clin, Dept Neurol & Neurosurg, Santiago, Chile

[4] Univ Cologne, Inst Human Genet, D-5000 Cologne, Germany

[5] Univ Cologne, Inst Genet, D-5000 Cologne, Germany

[6] Univ Cologne, Ctr Mol Med Cologne, D-5000 Cologne, Germany

[7] Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Tubingen, Germany

[8] Univ Kiel, Dept Neurol, D-2300 Kiel, Germany

[9] Toronto Western Hosp, Movement Disorders Ctr, Toronto, ON M5T 2S8, Canada

[10] Cent Hosp, European Acad Res, Dept Neurol, Bolzano, Italy

[11] European Acad Res, Inst Med Genet, Bolzano, Italy

[12] CCS, Inst Neurol, Belgrade, Serbia

来源：

MOVEMENT DISORDERS | 2009年 / 24卷 / 14期

关键词：

Parkinson's disease; ATP13A2; heterozygous changes; neuroimaging; PYRAMIDAL DEGENERATION; EXON REARRANGEMENTS; MUTATIONS; GENE; PINK1; DISORDERS; DEMENTIA; ORIGIN;

D O I：

10.1002/mds.22728

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 2009 Movement Disorder Society

引用

页码：2104 / 2111

页数：8

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