Mutated α-synuclein gene in two Greek kindreds with familial PD:: Incomplete penetrance?

被引：117

作者：

Papadimitriou, A

Veletza, V

Hadjigeorgiou, GM

Patrikiou, A

Hirano, M

Anastasopoulos, I

机构：

[1] Red Cross Hosp, Dept Neurol, Athens, Greece

[2] Univ Thessalia, Dept Neurol, Larisa, Greece

[3] Hellen Red Cross, Dept Gerontol, Athens, Greece

[4] Columbia Univ, Coll Phys & Surg, H Houston Merritt Clin Res Ctr Muscular Dystrophy, Dept Neurol, New York, NY USA

来源：

NEUROLOGY | 1999年 / 52卷 / 03期

关键词：

D O I：

10.1212/WNL.52.3.651

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The G209A mutation in the alpha-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to identify the G209A mutation in a sizable series of familial and sporadic cases of PD. The authors present two additional Greek families with ADPD associated with the G209A mutation. In both families, asymptomatic carriers older than the expected age at onset were found.

引用

页码：651 / 654

页数：4

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