What is the role of genetic testing in movement disorders practice?

Susanne A. Schneider*, Christine Klein

*Corresponding author for this work
5 Citations (Scopus)

Abstract

Genetic testing holds many promises in movement disorders, but also pitfalls that require careful consideration for meaningful results. These include the primary indication for testing in the first place, concerns regarding the implications of symptomatic, presymptomatic, and susceptibility testing, the mutation frequency in the gene of interest, the general lack of neuroprotective treatment options for neurodegenerative movement disorders, the prognosis of the condition diagnosed, and patient confidentiality concerns. Furthermore, new technical achievements and the available technical expertise, feasibility of specific gene testing, and its coverage through a health insurance carrier should be considered. Guidelines for testing have been established by some disease societies to advise clinicians and in parallel legal regulations are being adjusted at a national and international level. We review these and other critical points and recent developments regarding genetic testing in the field of movement disorders.

Original languageEnglish
JournalCurrent Neurology and Neuroscience Reports
Volume11
Issue number4
Pages (from-to)351-361
Number of pages11
ISSN1528-4042
DOIs
Publication statusPublished - 08.2011

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