Genetic Testing in Clinical Movement Disorders: A Case-Based Review

Semin Neurol. 2023 Feb;43(1):147-155. doi: 10.1055/s-0043-1763507. Epub 2023 Feb 28.


Genetics are fundamental to understanding the pathophysiology of neurological disease, including movement disorders. Genetic testing in clinical practice has changed dramatically over the last few decades. While the likelihood of establishing an etiological diagnosis is greater now with increased access to testing and more advanced technologies, clinicians face challenges when deciding whether to test, then selecting the appropriate test, and ultimately interpreting and sharing the results with patients and families. In this review, we use a case-based approach to cover core aspects of genetic testing for the neurologist, namely, genetic testing in Parkinson's disease, interpretation of inconclusive genetic test reports, and genetic testing for repeat expansion disorders using Huntington disease as a prototype.

Publication types

  • Review

MeSH terms

  • Genetic Testing / methods
  • Humans
  • Movement Disorders* / diagnosis
  • Movement Disorders* / genetics
  • Parkinson Disease* / genetics