Genetics and Parkinson's disease

被引:23
作者
Cordato, DJ
Chan, DKY
机构
[1] Bankstown Lidcombe Hosp, Dept Neurol, Bankstown, NSW 2200, Australia
[2] Bankstown Lidcombe Hosp, Dept Aged Care & Rehabil, Bankstown, NSW, Australia
关键词
Parkinson's disease; alpha-synuclein; parkin; gene polymorphisms;
D O I
10.1016/j.jocn.2003.10.009
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Idiopathic Parkinson's disease is a neurodegenerative disorder that affects 1-2% of the population over the age of 65 years. Its aetiology is most likely a combination of complex genetic and environmental factors. Although Mendelian inheritance is seen in less than 5% of cases, recent studies have identified three genes mutations causing Parkinson's disease with a Mendelian inheritance pattern: autosomal dominantly inherited mutations of the alpha-synuclein gene on chromosome 4q21-q23, autosomal recessively inherited mutations of the parkin gene on chromosome 6q25.2-q27 and an autosomal dominantly inherited mutation of the Ubiquitin C-terminal hydrolase L1 (UCH-L1) gene on chromosome 4p14-15.1. A number of other candidate gene polymorphisms including cytochrome P450 2D6, N-acetyltransferase 2, monoamine oxidase-B and glutathione-s-transferase M1 are implicated in sporadic and familial cases and may also play a minor role in the aetiology of Parkinson's disease. (C) 2003 Elsevier Ltd. All rights reserved.
引用
收藏
页码:119 / 123
页数:5
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