Lorincz Matthew T
Department of Neurology, University of Michigan, Ann Arbor, Michigan 48109, USA.
Semin Neurol. 2006 Nov;26(5):492-8. doi: 10.1055/s-2006-951621.
Parkinson's disease (PD) is a significant neurodegenerative disease of the elderly, affecting 1 to 2% of those over 60 years of age. The disorder is characterized by resting tremor, bradykinesia, rigidity, postural instability, and pathologically by alpha-synuclein-positive Lewy bodies. For most, the etiology is unknown and it is likely due to a multifactorial interaction of genes and the environment. In a minority, a clear environmental, toxic, or genetic etiology is determined. Six genes have been identified to cause diseases often indistinguishable from sporadic PD. Although accounting for only 1 to 3% of PD, the identification of single genes that cause PD clearly indicate that PD can have solely genetic causes. In addition to single-gene mutations, large familial aggregation and twin studies demonstrate a modest genetic component in idiopathic PD.
帕金森病(PD)是一种重要的老年神经退行性疾病,影响着1%至2%的60岁以上人群。该疾病的特征包括静止性震颤、运动迟缓、肌强直、姿势不稳,病理特征为α-突触核蛋白阳性的路易小体。对于大多数患者来说,病因不明,可能是基因与环境的多因素相互作用所致。少数情况下,可以确定明确的环境、毒性或遗传病因。已确定有六个基因可导致通常与散发性帕金森病难以区分的疾病。虽然这些基因导致的帕金森病仅占1%至3%,但单基因导致帕金森病的发现清楚地表明帕金森病可能完全由遗传因素引起。除了单基因突变外,大型家族聚集性研究和双胞胎研究表明特发性帕金森病存在一定的遗传因素。