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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Acknowledgements
The authors thank Jackie Senior and Kate McIntyre for editing the manuscript. T.J.d.K. has received a research grant from the Metakids research foundation. M.A.J.T. has received research grants from Stichting Wetenschapsfonds Dystonie Vereniging, Prinses Beatrix Foundation and STW Technology Society (NeuroSIPE).
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M.A.J.T. has received a research grant from Fonds NutsOhra and unrestricted grants from Ipsen Pharmaceuticals, Allergan Pharmaceuticals and Medtronic for a dystonia nurse, DystonieNet and a teaching course. T.J.d.K. declares no competing interests.
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de Koning, T., Tijssen, M. Genetic advances spark a revolution in dystonia phenotyping. Nat Rev Neurol 11, 78–79 (2015). https://doi.org/10.1038/nrneurol.2014.254
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DOI: https://doi.org/10.1038/nrneurol.2014.254
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