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Published on: February 14, 2012
Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review
Chiara Meneghini1, Luca Gallo1, Arianna Sala2,3,4
1Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Movement Disorders Clinical Practice
|June 5, 2026
Summary
Molecular neuroimaging reveals brain changes in genetic Parkinson's disease (PD) even before symptoms appear. These findings aid in distinguishing genetic PD and predicting disease progression.
Area of Science:
- Neuroscience
- Genetics
- Medical Imaging
Background:
- Parkinson's disease (PD) is a complex neurodegenerative disorder with both genetic and environmental influences.
- Approximately 15-20% of PD cases are attributed to specific genetic mutations, offering crucial insights into disease mechanisms.
Purpose of the Study:
- To review molecular neuroimaging findings in genetically linked PD.
- To identify markers differentiating genetic PD from sporadic forms and predict early disease conversion, focusing on pre-symptomatic stages.
Main Methods:
- Systematic literature search of PubMed and Scopus databases.
- Inclusion of molecular imaging studies on carriers of key PD-related mutations (SNCA, PRKN, PINK1, PARK7, LRRK2, GBA1) in symptomatic and asymptomatic individuals.
Main Results:
- Analysis of 96 studies detailing mutation-specific alterations in dopaminergic and extra-dopaminergic systems (serotonin, acetylcholine).
- Summary of metabolic and cerebral blood flow changes, alongside emerging data on beta-amyloid, tau pathology, and neuroinflammation.
Conclusions:
- Molecular neuroimaging (PET, SPECT) offers in vivo tracking of PD pathophysiology.
- Nuclear imaging provides valuable biomarkers for stratifying genetic PD patients, predicting cognitive decline, and guiding personalized treatments.
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