Hardy John, Cookson Mark R, Singleton Andrew
Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
Lancet Neurol. 2003 Apr;2(4):221-8. doi: 10.1016/s1474-4422(03)00350-8.
Genetic studies in families with mendelian inheritance of Parkinson's disease (PD) have reported the cloning of several disease-associated genes. These studies of rare familial forms of the disease have cast doubt on our understanding of the role of genetics in typical PD and have complicated the classification of the disorder. However, this genetic information might help us to construct a hypothesis for the pathogenetic processes that underlie PD. In this review we describe the molecular genetics of PD as currently understood to help explain the pathways that underlie neurodegeneration.
对帕金森病(PD)进行孟德尔遗传研究的家族中,已有多项研究报告了几个与疾病相关基因的克隆情况。这些针对该疾病罕见家族形式的研究,使我们对遗传学在典型帕金森病中所起作用的理解产生了怀疑,也使该疾病的分类变得复杂。然而,这些遗传信息或许能帮助我们构建一个关于帕金森病发病机制的假设。在这篇综述中,我们描述了目前所理解的帕金森病分子遗传学,以帮助解释神经退行性变的潜在途径。