Abstract
With the refinement of genetic sequencing and many other techniques, monogenic forms of dystonia as well as various genetic contributions and epigenetic factors are now available to guide the clinician in the pursue of an accurate diagnosis of this condition.
References
Fung VSC, Jinnah HA, Bhatia K, Vidailhet M. Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes. Mov Disord. 2013;28(7):889-98. http://dx.doi.org/10.1002/mds.25549
Frucht SJ. The definition of dystonia: current concepts and controversies. Mov Disord. 2013;28(7):884-8. http://dx.doi.org/10.1002/mds.25529
Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, et al. Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force. Mov Disord. 2016;31(4):436-657. http://dx.doi.org/10.1002/mds.26527
Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28(7):863-73. http://dx.doi.org/10.1002/mds.25475
Camargo CHF, Camargos ST, Cardoso FEC, Teive HAG. The genetics of the dystonias. Arq Neuropsiquiatr. 2015;73(4):350-58. http://dx.doi.org/0.1590/0004-282X20150030
LeDoux MS, Dauer WT, Warner TT. Emerging common molecular pathways for primary dystonia. Mov Disord. 2013;28(7): 968-981. http://dx.doi.org/doi:10.1002/mds.25547
Lohmann K, Klein C. Genetics of Dystonia: What's Known? What's New? What's Next?. Mov Disord. 2013;28(7):899-905. http://dx.doi.org/doi:10.1002/mds.25536
Phukan J, Albanese A, Gasser T, Warner T. Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis. Lancet Neurol. 2011;10(12):1074-85. http://dx.doi.org/doi:10.1016/S1474-4422(11)70232-0
Petrucci S and Valente EM. Genetic issues in the diagnosis of dystonias. FrontNeurol. 2013;4:34. http://dx.doi.org/doi:10.3389/fneur.2013.00034
Zech, M, Lam DD, Francescatto L, Schormair B, Salminen AV, Jochim A, et al. Recessive mutations in the alpha-3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. Am J Hum Genet. 2015;96(6):883-93.
Zech M, Boesch S, Maier EM, Borggraefe I, Vill K, Laccone F, et al. Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia. Am J Hum Genet. http://dx.doi.org/doi:10.1016/j.ajhg.2016.10.010
Mencacci NE, Agusti R, Zdebik A, Asmus F, Ludtmann MH, Ryten M, et al. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet. 2015;96(6):938-47. http://dx.doi.org/doi:10.1016/j.ajhg.2015.04.008
Heimer G, Keratar JM, Riley LG, Balasubramaniam SE, Pietikainen LP, Hiltunen JK, et al. MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder. Am J Hum Genet. 2016;99:1229-44.
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.