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. Epub 2015 Jan 6.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Dystonia / classification
  • Dystonia / diagnosis
  • Dystonia / genetics*
  • Genetic Predisposition to Disease
  • Genetic Techniques
  • Humans
  • Mice
  • Movement Disorders / classification
  • Movement Disorders / diagnosis
  • Movement Disorders / genetics*
  • Mutation*