Movement disorders in 2014: Genetic advances spark a revolution in dystonia phenotyping.

January
31st

Movement disorders in 2014: Genetic advances spark a revolution in dystonia phenotyping.

Nat Rev Neurol. 2015 Feb;11(2):78-9. doi: 10.1038/nrneurol.2014.254.

Genetic revelations in 2014 are testing traditional classification systems for movement disorders, and our approach to clinical diagnostics. Mutations in dystonia-associated genes lead to a spectrum of disorders with different phenotypes, underscoring the need for stringent clinical phenotyping of patients with movement disorders, as well as next-generation sequencing approaches.

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http://www.ncbi.nlm.nih.gov/pubmed/25561273