Will genotype drive treatment options?

Norbert Brüggemann, Christine Klein*

*Corresponding author for this work


Individual genetic variation can have a major impact on the clinical manifestation of a movement disorder and its response to treatment. Advances in gene discovery and increasing availability of diagnostic genetic testing have led to the identification of a growing number of patients with well-defined hereditary movement disorders. Establishing a genetic diagnosis may greatly impact patient counseling and shape therapeutic decisions. Further, assignment of a movement disorder to a specific genetic defect holds promise for the development of causal treatment approaches and individualized therapies, especially as the first gene-targeted approaches have recently entered clinical trials. However, important gaps remain, that is, genetic testing results are often inconclusive, gene-specific treatment options are still exceedingly rare, and designing clinical trials to demonstrate disease modification continues to pose a major challenge. © 2019 International Parkinson and Movement Disorder Society.
Original languageEnglish
JournalMovement Disorders
Issue number9
Pages (from-to)1294-1299
Number of pages6
Publication statusPublished - 01.09.2019

Research Areas and Centers

  • Research Area: Medical Genetics


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