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Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy

✍ Scribed by Elvira V. De Marco; Grazia Annesi; Patrizia Tarantino; Francesca E. Rocca; Giovanni Provenzano; Donatella Civitelli; Innocenza C. Cirò Candiano; Ferdinanda Annesi; Sara Carrideo; Francesca Condino; Giuseppe Nicoletti; Demetrio Messina; Fabiana Novellino; Maurizio Morelli; Aldo Quattrone

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
62 KB
Volume
23
Category
Article
ISSN
0885-3185

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✦ Synopsis

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. © 2007 Movement Disorder Society

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