Abstract：
: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.
journal_name
Brain Resjournal_title
Brain researchauthors
Rahner N,Holzmann C,Krüger R,Schöls L,Berger K,Riess Odoi
10.1016/s0006-8993(02)03138-4subject
Has Abstractpub_date
2002-09-27 00:00:00pages
82-6issue
1eissn
0006-8993issn
1872-6240pii
S0006899302031384journal_volume
951pub_type
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