帕金森症的遗传学

Genetics of parkinsonism.

作者信息

Lewthwaite Alistair J, Nicholl David J

机构信息

Department of Clinical Neuroscience, School of Medicine, University of Birmingham, Edgbaston, Birmingham B15 2TT, United Kingdom.

出版信息

Curr Neurol Neurosci Rep. 2005 Sep;5(5):397-404. doi: 10.1007/s11910-005-0064-6.

DOI:10.1007/s11910-005-0064-6

PMID:16131423

Abstract

Parkinson's disease (PD) is the second most common neurodegenerative disease after Alzheimer's disease. Some debate still exists as to whether PD is predominantly environmental or genetic in etiology. The genetic hypothesis of PD etiology has been driven recently by the identification of a number of PD loci. This review deals with each of these loci, discussing the latest data and evidence available. Of particular interest are the recently described mutations in the PINK1 (PARK6) and LRRK2 (PARK8) genes. We also consider the impact of these latest developments on our understanding of sporadic PD and on our everyday practice with PD patients.

摘要

帕金森病（PD）是仅次于阿尔茨海默病的第二常见神经退行性疾病。关于PD的病因主要是环境因素还是遗传因素，仍存在一些争议。最近，一些帕金森病基因座的发现推动了PD病因的遗传假说。本综述讨论了这些基因座中的每一个，探讨了现有的最新数据和证据。特别值得关注的是最近报道的PINK1（PARK6）和LRRK2（PARK8）基因的突变。我们还考虑了这些最新进展对我们理解散发性PD以及对我们日常治疗PD患者的影响。