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Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
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Updated: Dec 17, 2025

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[Genetic testing for Parkinson's disease: indication and practical implementation].

Lars Tönges1, Chi Wang Ip1, Christian Dresel2

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Summary

Genetic testing for Parkinson's disease is underutilized but crucial for diagnosing young-onset or familial cases. Future applications include personalized medicine and novel therapeutic strategies for hereditary Parkinson's disease.

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Area of Science:

  • Neurogenetics
  • Molecular Neurology

Background:

  • Monogenic causes of Parkinson's disease (PD) were identified over 20 years ago.
  • Despite advances in genetic testing, its application in PD diagnosis remains limited.
  • Genetic testing holds significant future potential for PD management.

Purpose of the Study:

  • To provide an overview of genetic testing basics, legal aspects, and procedures.
  • To discuss the future role of genetic testing in Parkinson's disease.
  • To highlight the importance of genetic testing for personalized medicine in PD.

Main Methods:

  • Review of current genetic testing technologies and their application in PD.
  • Analysis of legal frameworks governing genetic testing.
  • Discussion of diagnostic criteria and therapeutic implications.

Main Results:

  • Genetic testing is underused in current Parkinson's disease diagnosis.
  • Genetic testing is vital for identifying young-onset and familial Parkinson's disease.
  • Genetic testing facilitates personalized medicine approaches and new treatment options.

Conclusions:

  • Genetic testing is essential for accurate Parkinson's disease diagnosis, especially in specific patient groups.
  • The integration of genetic testing into clinical practice is key for advancing personalized medicine in Parkinson's disease.
  • Future research should focus on expanding the utility of genetic testing for hereditary Parkinson's disease.