Failure to find α-synuclein gene dosage changes in 190 patients with familial Parkinson disease

被引：20

作者：

Gispert, S

Trenkwalder, C

Mota-Vieira, L

Kostic, V

Auburger, G

机构：

[1] Univ Hosp, Sect Mol Neurogenet, Neurol Clin, D-60590 Frankfurt, Germany

[2] Univ Hosp, Inst Expt Neurobiol, Frankfurt, Germany

[3] Paracelsus Elena Clin, Kassel, Germany

[4] Hosp Divino Espirito Santo, Genet & Mol Pathol Unit, Azores, Portugal

[5] Clin Ctr Serbia, Inst Neurol, Belgrade, Serbia

来源：

ARCHIVES OF NEUROLOGY | 2005年 / 62卷 / 01期

关键词：

D O I：

10.1001/archneur.62.1.96

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background: Recently, a triplication of the a-synuclein locus was found associated with autosomal dominant Parkinson disease in a large family. Objective: To determine whether a triplication or some other dosage alteration in the alpha-synuclein gene is present in one or more patients with familial PD in a large multinational collective. Design: Retrospective recruitment of the largest families who were willing to cooperate with the study. Setting: Centers with specialization in movement disorders genetics. Patients: One hundred ninety unrelated patients with familial PD from Germany, Portugal, and Yugoslavia. Main Outcome Measures: a-Synuclein gene dosage values measured with real-time polymerase chain reaction. Results: None of the samples showed et-synuclein triplication, duplication, or deletion. Conclusion: Alterations in a-synuclein gene dosage are rare in familial PD.

引用

页码：96 / 98

页数：3

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