Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population.
An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson disease (PD) was recently reported in Ashkenazi Jews. The authors screened a series of 311 Norwegian patients with PD and 474 controls for 2 common functional mutations of the GBA protein, N370S and L444P. Seven patients (2.3%) and 8 controls (1.7%) carried a mutant GBA allele (p = 0.58). This study does not indicate increased susceptibility to PD in GBA mutations carriers in Norway.
Department of Neuroscience, Norwegian University of Science and Technology, N-7489 Trondheim, Norway. mathias.toft@ntnu.no
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D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001216:Asparagine; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005962:Glucosylceramidase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007930:Leucine; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D011392:Proline; D012694:Serine
D012694:Serine; D001216:Asparagine; D011392:Proline; D005962:Glucosylceramidase; D007930:Leucine