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Parkinson's Disease: Overview01:15

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Related Experiment Video

Updated: Aug 12, 2025

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Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review.

Emma N M M von Scheibler1,2, Agnies M van Eeghen1,3, Tom J de Koning4,5,6

  • 1Advisium's Heeren Loo Zorggroep Amersfoort The Netherlands.

Movement Disorders Clinical Practice
|January 26, 2023
PubMed
Summary

Parkinsonism is increasingly recognized in genetic neurodevelopmental disorders (GNDs). This review summarizes 69 GNDs with parkinsonism, highlighting early motor onset and common rigidity, with proposed mechanisms involving mitochondrial dysfunction and protein degradation pathways.

Keywords:
Parkinson's diseasegeneticintellectual disabilityneurodevelopmental disorderparkinsonism

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Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Clinical genetic testing advances reveal growing links between genetic neurodevelopmental disorders (GNDs) and parkinsonism.
  • Parkinsonism, a condition characterized by movement abnormalities, is being identified with increasing frequency in individuals with underlying genetic neurodevelopmental disorders.

Purpose of the Study:

  • To provide a comprehensive overview of reported cases of parkinsonism in genetic neurodevelopmental disorders.
  • To summarize key findings regarding genetic diagnoses, clinical presentations, and proposed underlying disease mechanisms.

Main Methods:

  • A systematic literature review was performed using PubMed and Embase databases.
  • Search terms combined parkinsonism and genetic neurodevelopmental disorders, utilizing generic terms and the Human Phenotype Ontology.
  • Data extraction from 208 reports (69 disorders, 422 patients) followed a modified Cochrane template; protocol registered in PROSPERO.

Main Results:

  • The most frequently reported disorders were 22q11.2 deletion syndrome, beta-propeller protein-associated neurodegeneration, Down syndrome, cerebrotendinous xanthomatosis, and Rett syndrome.
  • Key findings include an equal male to female ratio, a median motor onset age of 26 years, and rigidity being more prevalent than rest tremor.
  • Dopaminergic imaging, medication response, and neuropathology (neuronal loss) supported a neurodegenerative basis; proposed mechanisms involve mitochondrial function, neurotransmitter metabolism, and protein degradation systems.

Conclusions:

  • Parkinsonism is a recognized feature in numerous genetic neurodevelopmental disorders.
  • This review offers insights for future research directions and enhances the clinical management strategies for patients affected by GNDs and/or parkinsonism.