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

Authors :: Francesca Condino
Elvira Valeria De Marco
Donatella Civitelli
Ferdinanda Annesi
Maurizio Morelli
Aldo Quattrone
Francesca E. Rocca
Giovanni Provenzano
Demetrio Messina
Grazia Annesi
Fabiana Novellino
Giuseppe Nicoletti
Sara Carrideo
Innocenza Claudia Cirò Candiano
Patrizia Tarantino
Source :: Movement disorders 23 (2008): 460–463. doi:10.1002/mds.21892, info:cnr-pdr/source/autori:De Marco EV, Annesi G, Tarantino P, Rocca FE, Provenzano G, Civitelli D, Cirò Candiano IC, Annesi F, Carrideo S, Condino F, Nicoletti G, Messina D, Novellino F, Morelli M, Quattrone A./titolo:Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy./doi:10.1002%2Fmds.21892/rivista:Movement disorders/anno:2008/pagina_da:460/pagina_a:463/intervallo_pagine:460–463/volume:23
Publication Year :: 2008
Publisher :: Wiley, 2008.
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. (c) 2007 Movement Disorder Society.

Full Text Access

Tools