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Imaging Markers in Genetic Forms of Parkinson’s Disease
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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10452191/ https://www.ncbi.nlm.nih.gov/pubmed/37626568 http://dx.doi.org/10.3390/brainsci13081212 |
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author | Droby, Amgad Thaler, Avner Mirelman, Anat |
author_facet | Droby, Amgad Thaler, Avner Mirelman, Anat |
author_sort | Droby, Amgad |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10452191 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-104521912023-08-26 Imaging Markers in Genetic Forms of Parkinson’s Disease Droby, Amgad Thaler, Avner Mirelman, Anat Brain Sci Review 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. MDPI 2023-08-16 /pmc/articles/PMC10452191/ /pubmed/37626568 http://dx.doi.org/10.3390/brainsci13081212 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Droby, Amgad Thaler, Avner Mirelman, Anat Imaging Markers in Genetic Forms of Parkinson’s Disease |
title | Imaging Markers in Genetic Forms of Parkinson’s Disease |
title_full | Imaging Markers in Genetic Forms of Parkinson’s Disease |
title_fullStr | Imaging Markers in Genetic Forms of Parkinson’s Disease |
title_full_unstemmed | Imaging Markers in Genetic Forms of Parkinson’s Disease |
title_short | Imaging Markers in Genetic Forms of Parkinson’s Disease |
title_sort | imaging markers in genetic forms of parkinson’s disease |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10452191/ https://www.ncbi.nlm.nih.gov/pubmed/37626568 http://dx.doi.org/10.3390/brainsci13081212 |
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