title: Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy.
abstract: Recent studies have reported an association between the glucocerebrosidase (GBA) gene and Parkinson's disease (PD). To elucidate the role of this gene in our population, we screened 395 PD patients and 483 controls from southern Italy for the N370S and the L444P mutations. We found 11 patients (2.8%) carrying a heterozygous mutant GBA allele, whereas only one control subject (0.2%) had a heterozygous substitution (P = 0.0018). These results strongly suggest that Italian carriers of a GBA mutation have an increased risk of developing PD.
authors: Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
authors: Elvira V
authors: EV
authors: De Marco
authors: Grazia
authors: G
authors: Annesi
authors: Patrizia
authors: P
authors: Tarantino
authors: Francesca E
authors: FE
authors: Rocca
authors: Giovanni
authors: G
authors: Provenzano
authors: Donatella
authors: D
authors: Civitelli
authors: Innocenza C
authors: IC
authors: Cirò Candiano
authors: Ferdinanda
authors: F
authors: Annesi
authors: Sara
authors: S
authors: Carrideo
authors: Francesca
authors: F
authors: Condino
authors: Giuseppe
authors: G
authors: Nicoletti
authors: Demetrio
authors: D
authors: Messina
authors: Fabiana
authors: F
authors: Novellino
authors: Maurizio
authors: M
authors: Morelli
authors: Aldo
authors: A
authors: Quattrone
mesh_terms: D000368:Aged; D001216:Asparagine / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D007930:Leucine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D011392:Proline / Q000235:genetics; D012694:Serine / Q000235:genetics
chemical_list: D012694:Serine; D001216:Asparagine; D011392:Proline; D005962:Glucosylceramidase; D007930:Leucine