Article
Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.
Neurology - 27 Jan 2009
Nichols W C, Pankratz N, Marek D K, Pauciulo M W, Elsaesser V E, Halter C A, Rudolph A, Wojcieszek J, Pfeiffer R F, Foroud T
Abstract excerpt
OBJECTIVE: To characterize sequence variation within the glucocerebrosidase (GBA) gene in a select subset of our sample of patients with familial Parkinson disease (PD) and then to test in our full sample whether these sequence variants increased the risk for PD and were associated with an earlier onset of disease. METHODS: We performed a comprehensive study of all GBA exons in one patient with PD from each of 96...
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