Papadimitriou A, Veletza V, Hadjigeorgiou G M, Patrikiou A, Hirano M, Anastasopoulos I
Department of Neurology, University of Thessalia, Larisa, Greece.
Neurology. 1999 Feb;52(3):651-4. doi: 10.1212/wnl.52.3.651.
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.
α-突触核蛋白基因中的G209A突变与来自意大利孔图尔西的一个家族以及三个明显无亲缘关系的希腊家族中的常染色体显性帕金森病（ADPD）相关。世界各地的几个研究小组在大量家族性和散发性帕金森病病例中未能识别出G209A突变。作者展示了另外两个与G209A突变相关的希腊ADPD家族。在这两个家族中，均发现了年龄超过预期发病年龄的无症状携带者。
