Adult; Age of Onset; Aged; Cohort Studies; DNA Mutational Analysis; Europe; Female; Gene Dosage; Gene Duplication; Genetic Predisposition to Disease; Humans; Lewy Body Disease/genetics; Male; Middle Aged; Parkinson Disease/genetics; Point Mutation; alpha-Synuclein/genetics
Résumé :
[en] BACKGROUND: A triplication of the alpha-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families. METHOD: We searched for alterations of alpha-synuclein gene dosage and analysed the entire coding region for point mutations in 54 dementia with Lewy body disease (DLB) and in 103 young onset Parkinson's disease (PD) patients from Central Europe. RESULTS: We could not detect any quantitative alterations in the gene dosage of alpha-synuclein. Mutational screening of the entire coding region of alpha-synuclein revealed only one silent mutation V3V (adenine9guanine) in one case. CONCLUSIONS: Thus, this phenomenon appears not to be a major cause in the pathogenesis of sporadic DLB and young onset PD in this European population.
Centre de recherche :
- Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
Disciplines :
Génétique & processus génétiques
Auteur, co-auteur :
Hofer, A.
Berg, D.
Asmus, F.
Niwar, M.
Ransmayr, G.
Riemenschneider, M.
Bonelli, S.-B.
Steffelbauer, M.
Ceballos-Baumann, A.
Haussermann, P.
Behnke, S.
KRÜGER, Rejko ; University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit
