Karamohamed Samer, Golbe L I, Mark M H, Lazzarini A M, Suchowersky O, Labelle N, Guttman Mark, Currie L J, Wooten G F, Stacy M, Saint-Hilaire M, Feldman R G, Liu J, Shoemaker C M, Wilk J B, DeStefano A L, Latourelle J C, Xu G, Watts R, Growdon J, Lew M, Waters C, Vieregge P, Pramstaller P P, Klein C, Racette B A, Perlmutter J S, Parsian A, Singer Carlos, Montgomery E, Baker K, Gusella J F, Herbert A, Myers R H
Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, USA.
Mov Disord. 2005 Sep;20(9):1188-91. doi: 10.1002/mds.20515.
Parkinson's disease (PD) is a neurodegenerative disorder in which relatives of the probands are affected approximately 4 times as frequently as relatives of control subjects. Several genes have been implicated as genetic risk factors for PD. We investigated the presence of six reported genetic variations in the SCNA, NR4A2, and DJ-1 genes in 292 cases of familial Parkinson's disease from the GenePD study. None of the variants were found in the GenePD families. Our results suggest that other variants or genes account for the familial risk of PD within the GenePD study.
帕金森病（PD）是一种神经退行性疾病，其中先证者的亲属患病频率约为对照受试者亲属的4倍。已有多个基因被认为是帕金森病的遗传风险因素。我们在基因帕金森病（GenePD）研究的292例家族性帕金森病病例中，调查了SCNA、NR4A2和DJ-1基因中6个已报道的基因变异的存在情况。在GenePD家族中未发现任何变异。我们的结果表明，在GenePD研究中，其他变异或基因导致了帕金森病的家族风险。
