TY - JOUR
T1 - Mutations in the glucocerebrosidase gene and Parkinson disease
T2 - Phenotype-genotype correlation
AU - Aharon-Peretz, Judith
AU - Badarny, Samih
AU - Rosenbaum, Hanna
AU - Gershoni-Baruch, Ruth
PY - 2005/11/8
Y1 - 2005/11/8
N2 - Mutations in the glucocerebrosidase (GBA) gene have been recently identified as contributory to Parkinson disease (PD) in Ashkenazi Jews. In the present study, the clinical characteristics of Ashkenazi patients with PD with GBA mutations (n = 40) were compared to those of Ashkenazi patients with PD without any known GBA mutation (n = 108). The overall clinical manifestations and age at disease onset did not differ in patients with GBA mutations compared to patients without mutations.
AB - Mutations in the glucocerebrosidase (GBA) gene have been recently identified as contributory to Parkinson disease (PD) in Ashkenazi Jews. In the present study, the clinical characteristics of Ashkenazi patients with PD with GBA mutations (n = 40) were compared to those of Ashkenazi patients with PD without any known GBA mutation (n = 108). The overall clinical manifestations and age at disease onset did not differ in patients with GBA mutations compared to patients without mutations.
UR - http://www.scopus.com/inward/record.url?scp=27644455088&partnerID=8YFLogxK
U2 - 10.1212/01.wnl.0000176987.47875.28
DO - 10.1212/01.wnl.0000176987.47875.28
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C2 - 16148263
AN - SCOPUS:27644455088
SN - 0028-3878
VL - 65
SP - 1460
EP - 1461
JO - Neurology
JF - Neurology
IS - 9
ER -