چکیده : 

Background: Parkinson’s disease (PD) is characterized by progressive neuronal cell loss and

decline in movement. Recently, much attention has been focused on the dopaminergic

neurotoxicity, which causes neurogeneration in the nervous system, thus implicating

dysfunction in predisposition to PD pathogenesis. b-glucosidase (GBA), the enzyme deficient

in Gaucher’s disease, has been cited as linked with Parkinson’s disease. We investigated

whether GBA mutation is associated with PD patients in middle Taiwan.

Methods: GBA mutation was detected by polymerase chain reaction and sequencing in 148

patients with PD and 120 normal controls.

Results: The results revealed a significant difference between PD patients and normal

controls in GBA mutation and a statistic correlation between GBA mutation L444P and PD

formation. It could be concluded that patients who carry the T/C of GBA mutation, L444P,

have a higher risk of developing PD in Chinese patients in middle Taiwan.