Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease

被引:10
作者
Rahner, N
Holzmann, C
Krüger, R
Schöls, L
Berger, K
Riess, O
机构
[1] Univ Rostock, Childrens Hosp, Dept Med Genet, D-18055 Rostock, Germany
[2] Univ Tubingen, Dept Neurol, D-72076 Tubingen, Germany
[3] Ruhr Univ Bochum, St Josef Hosp, Dept Neurol, D-44791 Bochum, Germany
[4] Univ Munster, Inst Epidemiol & Social Med, D-48129 Munster, Germany
关键词
mutation;
D O I
10.1016/S0006-8993(02)03138-4
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Mutations in two genes, alpha-synuclein and parkin, have been identified as some rare causes for familial Parkinson's disease (PD). alpha-Synuclein and parkin protein have subsequently been identified in Lewy bodies (LB). To gain further insight into the pathogenesis of PD we investigated the role of neurofilament light (NF-L), another component of LB aggregation. A detailed mutation search of the NF-L gene in 328 sporadic and familial PD patients of German ancestry revealed three silent DNA changes (G163A, C224T, C487T) in three unrelated patients. Analysis of the promoter region of the NF-L gene identified a total of three base pair substitutions defining five haplotypes. Association studies based on these haplotypes revealed no significant differences between PD patients and 344 control individuals. Therefore, NF-L is unlikely to play a major role in the pathogenesis of PD. (C) 2002 Elsevier Science B.V. All rights reserved.
引用
收藏
页码:82 / 86
页数:5
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