Article
Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy.
Movement disorders : official journal of the Movement Disorder Society - 15 Feb 2008
De Marco Elvira V, Annesi Grazia, Tarantino Patrizia, Rocca Francesca E, Provenzano Giovanni, Civitelli Donatella, Cirò Candiano Innocenza C, Annesi Ferdinanda, Carrideo Sara, Condino Francesca, Nicoletti Giuseppe, Messina Demetrio, Novellino Fabiana, Morelli Maurizio, Quattrone Aldo
Abstract excerpt
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...
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