TY - JOUR
T1 - Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease
AU - Rahner, Nils
AU - Holzmann, Carsten
AU - Krüger, Rejko
AU - Schöls, Ludger
AU - Berger, Klaus
AU - Riess, Olaf
N1 - Funding Information:
We thank numerous clinicians for providing blood samples of PD patients. The published results are part of the M.D. thesis of NR. This study has been supported by the DFG (Scho754/2-1 to LS and RK) and the BMBF MedNet program (to OR). Data assessment in the MEMO-study was done within the framework of the Cooperative Health Research in the Augsburg Region (KORA). The MEMO-study was supported by the DFG (BE 1996/1-1 to KB).
PY - 2002/9/27
Y1 - 2002/9/27
N2 - Mutations in two genes, α-synuclein and parkin, have been identified as some rare causes for familial Parkinson's disease (PD). α-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.
AB - Mutations in two genes, α-synuclein and parkin, have been identified as some rare causes for familial Parkinson's disease (PD). α-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.
KW - Mutation
UR - http://www.scopus.com/inward/record.url?scp=0037183715&partnerID=8YFLogxK
U2 - 10.1016/S0006-8993(02)03138-4
DO - 10.1016/S0006-8993(02)03138-4
M3 - Article
C2 - 12231460
AN - SCOPUS:0037183715
SN - 0006-8993
VL - 951
SP - 82
EP - 86
JO - Brain Research
JF - Brain Research
IS - 1
ER -