Comparison of Transcranial Sonography and [18F]‐Fluorodopa PET Imaging in GBA1 Mutation Carriers

Background Mutations in GBA1 are a common genetic risk factor for parkinsonism; however, penetrance is incomplete, and biomarkers of future progression to parkinsonism are needed. Both nigral sonography and striatal [18F]‐FDOPA PET assay dopamine system health, but their utility and coherence in thi...

Full description

Saved in:
Bibliographic Details
Published inMovement disorders Vol. 37; no. 3; pp. 629 - 634
Main Authors Eisenberg, Daniel P., Lopez, Grisel, Gregory, Michael D., Berman, Karen F., Sidransky, Ellen
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.03.2022
Wiley Subscription Services, Inc
Subjects
18F‐fluorodopa PET imaging
Basal ganglia
Brain diseases
Central nervous system diseases
Dihydroxyphenylalanine - analogs & derivatives
Dopamine
Gaucher disease
glucocerebrosidase
Glucosylceramidase - genetics
Humans
Movement disorders
Mutation
Mutation - genetics
Neostriatum
Parkinsonian Disorders - genetics
parkinsonism
Patients
Positron-Emission Tomography - methods
Risk factors
Substantia nigra
transcranial sonography
Ultrasonic imaging
Ultrasonography
18F-fluorodopa PET imaging
Gaucher disease
parkinsonism
glucocerebrosidase
transcranial sonography
Online AccessGet full text

Cover

More Information
Summary:Background Mutations in GBA1 are a common genetic risk factor for parkinsonism; however, penetrance is incomplete, and biomarkers of future progression to parkinsonism are needed. Both nigral sonography and striatal [18F]‐FDOPA PET assay dopamine system health, but their utility and coherence in this context are unclear. Objective The aim of this study is to evaluate the utility and coherence of these modalities in GBA1‐associated parkinsonism. Methods A total of 34 patients with GBA1 mutations (7 with parkinsonism) underwent both transcranial studies for substantia nigra echogenicity and [18F]‐FDOPA PET to determine striatal tracer‐specific uptake (Ki). Results Larger nigral echogenic areas and reduced striatal Ki were exclusively observed in parkinsonian patients. Sonographic and PET measurements showed strong inverse correlations but only in individuals with clinical parkinsonism. Conclusions Close correspondence between nigral echogenicity and striatal presynaptic dopamine synthesis capacity observed only in GBA1 carriers with parkinsonism provides validation that these two modalities may conjointly capture aspects of the biology underlying clinical parkinsonism but raises questions about their utility as predictive tools in at‐risk subjects. © 2022 International Parkinson and Movement Disorder Society
Bibliography:Daniel P. Eisenberg and Grisel Lopez contributed equally to this article.
Relevant conflicts of interest/financial disclosures
Funding agencies
The authors have no conflicts of interest or financial disclosures to report.
This work was supported by the intramural research programs of the National Human Genome Research Institute and the National Institute of Mental Health, the National Institutes of Health.
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 14
GL: Recruited the patients, performed the sonography, organized the data, reviewed and critiqued the manuscript.
DPE: Analyzed the PET Data, prepared the figure, wrote first draft of the manuscript.
KFB: Supervised the PET studies, reviewed and critiqued the work.
Authors’ Roles
These authors contributed equally
MDG: Analyzed the PET data, reviewed the manuscript.
ES: Conceived of and organized the study, wrote the mature draft.
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.28852