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Mov Disord. 2019 Apr 10. doi: 10.1002/mds.27699. [Epub ahead of print]

Will genotype drive treatment options?

Author information

1
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
2
Department of Neurology, University of Lübeck, Lübeck, Germany.

Abstract

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.

KEYWORDS:

genetic testing; genotype; genotype-treatment relationship; hereditary movement disorders; treatment

PMID:
30970153
DOI:
10.1002/mds.27699

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