Article
Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations.
Annals of neurology - 1 Apr 2020
Lopez Grisel, Eisenberg Daniel P, Gregory Michael D, Ianni Angela M, Grogans Shannon E, Masdeu Joseph C, Kim Jenny, Groden Catherine, Sidransky Ellen, Berman Karen F
Abstract excerpt
Mutations in GBA1, the gene mutated in Gaucher disease, are a common genetic risk factor for Parkinson disease, although the penetrance is low. We performed [18 F]-fluorodopa positron emission tomography studies of 57 homozygous and heterozygous GBA1 mutation carriers (15 with parkinsonism) and 98 controls looking for early indications of dopamine loss using voxelwise analyses to identify group differences in...
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