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.
This is a preview of subscription content, access via your institution
Relevant articles
Open Access articles citing this article.
-
Exploring neurologists’ perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines
BMC Medical Ethics Open Access 29 September 2018
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Steeves, T. D., Day, L., Dykeman, J., Jette, N. & Pringsheim, T. The prevalence of primary dystonia: a systematic review and meta-analysis. Mov. Disord. 27, 1789–1796 (2012).
Albanese, A. et al. Phenomenology and classification of dystonia: a consensus update. Mov. Disord. 28, 863–873 (2013).
Charlesworth, G. et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am. J. Hum. Genet. 91, 1041–1050 (2012).
Fuchs, T. et al. Mutations in GNAL cause primary torsion dystonia. Nat. Genet. 45, 88–92 (2013).
Rosewich, H. et al. The expanding clinical and genetic spectrum of ATP1A3-related disorders. Neurology 82, 945–955 (2014).
Heinzen, E. L. et al. Distinct neurological disorders with ATP1A3 mutations. Lancet Neurol. 13, 503–514 (2014).
Hamilton, E. M. et al. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation. Brain 137, 1921–1930 (2014).
Chen, C. H., Fremont, R., Arteaga-Bracho, E. E. & Khodakhah, K. Short latency cerebellar modulation of the basal ganglia. Nat. Neurosci. 17, 1767–1775 (2014).
Liang, C. C., Tanabe, L. M., Jou, S., Chi, F. & Dauer, W. T. TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration. J. Clin. Invest. 124, 3080–3092 (2014).
Van Egmond, M. E. et al. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm. J. Neurol. Neurosurg. Psychiatry http://dx.doi.org/10.1136/jnnp-2014-309106.
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).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
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.
Rights and permissions
About this article
Cite this article
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
Published:
Issue Date:
DOI: https://doi.org/10.1038/nrneurol.2014.254
This article is cited by
-
Exploring neurologists’ perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines
BMC Medical Ethics (2018)
-
Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey
European Journal of Human Genetics (2017)
