Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations |
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| Authors: | Grisel Lopez MD Daniel P Eisenberg MD Michael D Gregory MD Angela M Ianni PhD Shannon E Grogans BA Joseph C Masdeu MD PhD Jenny Kim BA Catherine Groden MS CRNP Ellen Sidransky MD Karen F Berman MD |
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| Institution: | 1. Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD;2. Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD |
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| Abstract: | 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 18F]-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 striatal 18F]-fluorodopa uptake (Ki). Forty-eight subjects were followed longitudinally. Cross-sectional and longitudinal comparisons of Ki and Ki change found significant effects of Parkinson disease. However, at baseline and over time, striatal 18F]-fluorodopa uptake in mutation carriers without parkinsonism did not significantly differ from controls. ANN NEUROL 2020;87:652–657 |
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