Geriatric Research, Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA.
J Geriatr Psychiatry Neurol. 2010 Dec;23(4):228-42. doi: 10.1177/0891988710383572. Epub 2010 Oct 11.
Parkinson disease (PD) is the second most common neurodegenerative disorder. In most instances, PD is thought to result from a complex interaction between multiple genetic and environmental factors, though rare monogenic forms of the disease do exist. Mutations in 6 genes (SNCA, LRRK2, PRKN, DJ1, PINK1, and ATP13A2) have conclusively been shown to cause familial parkinsonism. In addition, common variation in 3 genes (MAPT, LRRK2, and SNCA) and loss-of-function mutations in GBA have been well-validated as susceptibility factors for PD. The function of these genes and their contribution to PD pathogenesis remain to be fully elucidated. The prevalence, incidence, clinical manifestations, and genetic components of PD are discussed in this review.
帕金森病（PD）是第二常见的神经退行性疾病。大多数情况下，PD 被认为是由多种遗传和环境因素的复杂相互作用引起的，尽管确实存在罕见的单基因形式的疾病。6 个基因（SNCA、LRRK2、PRKN、DJ1、PINK1 和 ATP13A2）的突变已被明确证实可导致家族性帕金森病。此外，3 个基因（MAPT、LRRK2 和 SNCA）的常见变异和 GBA 的功能丧失突变已被充分验证为 PD 的易感因素。这些基因的功能及其对 PD 发病机制的贡献仍有待充分阐明。本文综述了 PD 的患病率、发病率、临床表现和遗传成分。
