Imaging Markers in Genetic Forms of Parkinson’s Disease

Amgad Droby*, Avner Thaler, Anat Mirelman

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

Abstract

Parkinson’s disease (PD) is a complex neurodegenerative disorder characterized by motor symptoms such as bradykinesia, rigidity, and resting tremor. While the majority of PD cases are sporadic, approximately 15–20% of cases have a genetic component. Advances in neuroimaging techniques have provided valuable insights into the pathophysiology of PD, including the different genetic forms of the disease. This literature review aims to summarize the current state of knowledge regarding neuroimaging findings in genetic PD, focusing on the most prevalent known genetic forms: mutations in the GBA1, LRRK2, and Parkin genes. In this review, we will highlight the contributions of various neuroimaging modalities, including positron emission tomography (PET), single-photon emission computed tomography (SPECT), and magnetic resonance imaging (MRI), in elucidating the underlying pathophysiological mechanisms and potentially identifying candidate biomarkers for genetic forms of PD.

Original languageEnglish
Article number1212
JournalBrain Sciences
Volume13
Issue number8
DOIs
StatePublished - Aug 2023

Funding

FundersFunder number
Michael J. Fox Foundation for Parkinson's Research
AbbVie

    Keywords

    • Parkinson’s disease
    • genetics
    • imaging markers
    • prodromal PD

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