Chan P, Tanner C M, Jiang X, Langston J W
Parkinson's Institute, Sunnyvale, CA 94089, USA.
Neurology. 1998 Feb;50(2):513-4. doi: 10.1212/wnl.50.2.513.
The missense G209A mutation at exon 4 of the alpha-synuclein gene was recently found to be responsible for familial Parkinson's disease (PD) in a large kindred of Italian descent. We studied 100 typical PD patients with onset before age 51, both with and without a family history of PD. We did not find this alpha-synuclein missense mutation in any patient, but it was present in a symptomatic member of the Contursi family.
最近发现，α-突触核蛋白基因第4外显子的错义G209A突变是导致一个意大利裔大家族患家族性帕金森病（PD）的原因。我们研究了100例51岁之前发病的典型PD患者，其中既有PD家族史的患者，也有没有PD家族史的患者。我们在任何患者中均未发现这种α-突触核蛋白错义突变，但在孔图尔西家族的一名有症状成员中发现了该突变。
