Genética de las distonías

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.