Parkin polymorphisms and environmental exposure: Decrease in age at onset of Parkinson's disease

被引:12
作者
Ghione, Isabella
Di Fonzo, Alessio
Saladino, Francesca
Del Bo, Roberto
Bresolin, Nereo
Comi, Giacomo Pietro
Rango, Mario [1 ]
机构
[1] Univ Milan, Ctr Morbo Parkinson, Ctr Dino Ferrari, Dept Neurol Sci, Milan, Italy
[2] Osped Maggiore Policlin, Fdn IRCCS, Milan, Italy
关键词
age of onset of Parkinson's diseased; Parkin polymorphisms; environmental risk factors for Parkinson's disease;
D O I
10.1016/j.neuro.2007.01.004
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
We tested the hypothesis that parkin polymorphisms (SNPs) and environmental exposure (EE) interact to reduce the age of onset of idiopathic Parkinson disease (PD). We prospectively and consecutively enrolled a total of 81 Italian PD patients. The diagnosis of PD was based on the UK Parkinson's Disease Society's brain bank criteria. Twenty-one patients with a positive family history for PD or tremor were excluded from the study. We collected information about medical history and EE. PARK], PARK2 genes and PARK8 (exon 41) were screened. We detected one parkin mutation in a single patient and three Parkin polymorphisms in a total of 25 patients; no alpha synuclein mutations, no common mutations of LRKK2 gene were found. The mutation -positive patient has been excluded from the study. The cohort of the remaining 59 patients has been divided into four subgroups, according to the presence/absence of parkin polymorphisms and the presence/absence of environmental factors-expo sure. The age of onset of PD was significantly lower in patients with both SNPs and EE as compared to patients without (62.18 +/- 9.5 years versus 71.62 +/- 8 years, p = 0.024; - 13%). Patients with either SNPs or EE had an intermediate age of onset. The association of Parkin polymorphisms and environmental exposure has a strong effect in lowering the age of onset of PD; the effect of environmental exposure or parkin polymorphisms alone seems to influence modestly the age of onset of PD. Individuals with environmental/occupational exposure should be screened for the presence of parkin SNPs. (C) 2007 Elsevier Inc. All rights reserved.
引用
收藏
页码:698 / 701
页数:4
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