Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations

Grisel Lopez, Daniel P. Eisenberg, Michael D. Gregory, Angela M. Ianni, Shannon E. Grogans, Joseph C. Masdeu, Jenny Kim, Catherine Groden, Ellen Sidransky, Karen F. Berman

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)652-657
Number of pages6
JournalAnnals of Neurology
Volume87
Issue number4
DOIs
StatePublished - Apr 1 2020

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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