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Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy |
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| Authors: | Elvira V. De Marco PhD Grazia Annesi PhD Patrizia Tarantino PhD Francesca E. Rocca PhD Giovanni Provenzano PhD Donatella Civitelli PhD Innocenza C. Cirò Candiano PhD Ferdinanda Annesi PhD Sara Carrideo PhD Francesca Condino PhD Giuseppe Nicoletti MD Demetrio Messina MD Fabiana Novellino MD Maurizio Morelli MD Aldo Quattrone MD |
| Affiliation: | 1. Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy;2. Institute of Neurology, University Magna Graecia, Catanzaro, 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. © 2007 Movement Disorder Society |
| Keywords: | Parkinson's disease Gaucher's disease glucocerebrosidase |