Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy
- 11 December 2007
- journal article
- research article
- Published by Wiley in Movement Disorders
- Vol. 23 (3) , 460-463
- https://doi.org/10.1002/mds.21892
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 SocietyKeywords
This publication has 14 references indexed in Scilit:
- Glucocerebrosidase mutations are an important risk factor for Lewy body disordersNeurology, 2006
- Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian populationNeurology, 2006
- Glucocerebrosidase mutations are also found in subjects with early‐onset parkinsonism from VenezuelaMovement Disorders, 2006
- Analysis of the glucocerebrosidase gene in Parkinson's diseaseMovement Disorders, 2005
- Parkinsonism among Gaucher disease carriersJournal of Medical Genetics, 2004
- Mutations in the Glucocerebrosidase Gene and Parkinson's Disease in Ashkenazi JewsNew England Journal of Medicine, 2004
- Pilot association study of the β‐glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicityMovement Disorders, 2004
- Glucocerebrosidase mutations in subjects with parkinsonismMolecular Genetics and Metabolism, 2004
- Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?Molecular Genetics and Metabolism, 2003
- Occurrence of Parkinson's syndrome in type 1 Gaucher diseaseQJM: An International Journal of Medicine, 1996