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

doi:10.1002/ana.25692

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 journal › Article › peer-review

8 Scopus citations

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 (K_i). Forty-eight subjects were followed longitudinally. Cross-sectional and longitudinal comparisons of K_i and K_i 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 language	English (US)
Pages (from-to)	652-657
Number of pages	6
Journal	Annals of Neurology
Volume	87
Issue number	4
DOIs	https://doi.org/10.1002/ana.25692
State	Published - Apr 1 2020

ASJC Scopus subject areas

Neurology
Clinical Neurology

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title = "Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations",

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.",

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

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T1 - Longitudinal Positron Emission Tomography of Dopamine Synthesis in Subjects with GBA1 Mutations

AU - Lopez, Grisel

AU - Eisenberg, Daniel P.

AU - Gregory, Michael D.

AU - Ianni, Angela M.

AU - Grogans, Shannon E.

AU - Masdeu, Joseph C.

AU - Kim, Jenny

AU - Groden, Catherine

AU - Sidransky, Ellen

AU - Berman, Karen F.

PY - 2020/4/1

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

Abstract

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