Alpha-synuclein and Parkinson's disease:: Implications from the screening of more than 1,900 patients

被引：59

作者：

Berg, D

Niwar, M

Maass, S

Zimprich, A

Möller, JC

Wuellner, U

Schmitz-Hübsch, T

Klein, C

Tan, EK

Schöls, L

Marsh, L

Dawson, TM

Janetzky, B

Müller, T

Woitalla, D

Kostic, V

Pramstaller, PP

Oertel, WH

Bauer, P

Krueger, R

Gasser, T

Riess, O

机构：

[1] Univ Tubingen, Inst Med Genet, D-72076 Tubingen, Germany

[2] Univ Tubingen, Ctr Neurol, D-72074 Tubingen, Germany

[3] Univ Tubingen, Hertie Inst Clin Brain Res, D-72074 Tubingen, Germany

[4] Univ Munich, Dept Neurol, D-80539 Munich, Germany

[5] Med Univ Vienna, Dept Neurol, Vienna, Austria

[6] Univ Marburg, Dept Neurol, D-35032 Marburg, Germany

[7] Univ Bonn, Dept Neurol, D-5300 Bonn, Germany

[8] Univ Lubeck, Dept Neurol, Lubeck, Germany

[9] Singapore Gen Hosp, Dept Neurol, Singapore 0316, Singapore

[10] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA

[11] Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA

[12] Univ Dresden, Dept Neurol, Dresden, Germany

[13] Ruhr Univ Bochum, Dept Neurol, Bochum, Germany

[14] Univ Belgrade, Sch Med, Dept Neurol, Belgrade, Serbia Monteneg

[15] Gen Reg Hosp Bolzano, Dept Neurol, Bolzano, Italy

[16] EURAC, Bolzano, Italy

来源：

MOVEMENT DISORDERS | 2005年 / 20卷 / 09期

关键词：

alpha-synuclein; Parkinson's disease; silent mutation; mutational screening;

D O I：

10.1002/mds.20504

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Data on the frequency of a-synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent sequencing we only detected silent mutations (g.2654A>G, g.10151G>A, and g.15986A>T) and the c.209G> A substitution corresponding to the p.A53T mutation. These results demonstrate that mutations in the a-synuclein gene are rare and suggest that other factors contribute to alpha-synuclein aggregation in the majority of PD patients. (C) 2005 Movement Disorder Society.

引用

页码：1191 / 1194

页数：4

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