The importance of genetic testing for dystonia patients and translational research

Jelena Pozojevic, Christian Beetz, Ana Westenberger*

*Corresponding author for this work
1 Citation (Scopus)


Genetic testing through a variety of methods is a fundamental but underutilized approach for establishing the precise genetic diagnosis in patients with heritable forms of dystonia. Our knowledge of numerous dystonia-related genes, variants that they may contain, associated clinical presentations, and molecular disease mechanism may have significant translational potential for patients with genetically confirmed dystonia or their family members. Importantly, genetic testing permits the assembly of patient cohorts pertinent for dystonia-related research and developing therapeutics. Here we review the genetic testing approaches relevant to dystonia patients, and summarize and illustrate the multifold benefits of establishing an accurate molecular diagnosis for patients imminently or for translational research in the long run.

Original languageEnglish
JournalJournal of Neural Transmission
Issue number4
Pages (from-to)473-481
Number of pages9
Publication statusPublished - 04.2021

Research Areas and Centers

  • Research Area: Medical Genetics


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