Resumen
La distonía es una entidad pobremente comprendida ya que a pesar que la era genómica ha proporcionado muchas pistas para la elucidación de los circuitos cerebrales responsables de este fenómeno, aún resta mucho por entender debido a que los modelos actuales son insuficientes para comprender a cabalidad esta entidad clínica.
Citas
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
Geyer HL, Bressman SB. The diagnosis of dystonia. Lancet neurology. 2006;5(9): 780-90. http://dx.doi.org/10.1016/S1474-4422(06)70547-6
Xiao J, Vemula SR, LeDoux MS. Recent advances in the genetics of dystonia. Curr Neurol Neurosci Rep.2014;14(8):462. http://dx.doi.org/10.1007/s11910-014-0462-8
Risch NJ, Bressman SB, Senthil G, Ozelius LJ. Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet. 2007;80(6):1188-93. http://dx.doi.org/10.1086/518427
Segawa M, Nomura M. Genetics and pathophysiology of primary dystonia with special emphasis on DYT1 and DYT5. Semin Neurol. 2014;34(3):306-11.
Jinnah H, Richter A, Mink JW Caldwell GA, Caldwell KA, Gonzalez AP. Animal models for drug discovery in dystonia. Expert Opin Drug Discov. 2008;3(1):83-97. http://dx.doi.org/10.1517/17460441.3.1.83
Evinger C. Animal models of focal dystonia. 2005;2(3):513-24.
Richter F, Richter A. Genetic animal models of dystonia: common features and diversities. Prog Neurobiol.2014;121:91-113.
Defazio G, Berardelli A, Hallett M. Do primary adult-onset focal dystonias share aetiological factors?. Brain. 2007;130(Pt 5):1183-93. http://dx.doi.org/10.1093/brain/awl355
Carbon M, Niethammer M, Peng S, Raymond D, Dhawan V, Chaly T, et al. Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia. Neurology. 2009; 72(24):2097-103.
Premi E, Diano M, Gazzina S, Cauda F, Gualeni V, Tinazzi M, et al. Functional Connectivity Networks in Asymptomatic and Symptomatic DYT1 Carriers. Mov Disord. 2016;31(11):1739-43. http://dx.doi.org/10.1002/mds.26725
Obeso JA, Rodriguez-Oroz MC, Stamelou M, Bhatia KP, Burn DJ. The expanding universe of disorders of the basal ganglia. Lancet.2014;384(9942):523-31.
Carbon M, Kingsley PB, Su S, et al. Microstructural white matter changes in carriers of the DYT1 gene mutation. Annals of neurology. 2004;56(2):283-6. http://dx.doi.org/10.1016/S0140-6736(13)62418-6
Colosimo C, Pantano P, Calistri V, Totaro P, Fabbrini G, Berardelli A. Diffusion tensor imaging in primary cervical dystonia. J Neurol Neurosurg Psychiatry. 2005;76(11):1591-3. http://dx.doi.org/10.1136/jnnp.2004.056614
Blood AJ, Tuch DS, Makris N, Makhlouf ML, Sudarsky LR, Sharma N. White matter abnormalities in dystonia normalize after botulinum toxin treatment. Neuroreport. 2006;17(12): 1251-5. http://dx.doi.org/10.1097/01.wnr.0000230500.03330.01
Obermann M, Yaldizli O, De Greiff A, et al. Morphometric changes of sensorimotor structures in focal dystonia. Mov Disord. 2007;22(8):1117-23. http://dx.doi.org/10.1002/mds.21495
Breakefield XO, Blood AJ, Li Y, Hallett M, Hanson PI, Standaert DG. The pathophysiological basis of dystonias. Nat Rev Neurosci. 2008;9(3):222-34. http://dx.doi.org/10.1038/nrn2337
Hallett M. Pathophysiology of dystonia. J Neural Transm Suppl.2006;(70):485-8.
Byl NN, McKenzie A, Nagarajan SS. Differences in somatosensory hand organization in a healthy flutist and a flutist with focal hand dystonia: a case report. J Hand Ther. 2000;13(4):302-9.
Thickbroom GW, Byrnes ML, Stell R, Mastaglia FL. Reversible reorganisation of the motor cortical representation of the hand in cervical dystonia. Mov Disord. 2003;18(4):395-402. http://dx.doi.org/10.1002/mds.10383
Berman BD, Jinnah HA. Dystonia: Five new things. Neurol Clin Pract. 2015;5(3):232-40. http://dx.doi.org/10.1212/CPJ.0000000000000128
Prudente CN, Hess EJ, Jinnah HA. Dystonia as a network disorder: what is the role of the cerebellum?. Neuroscience. 2014;260:23-35.
Neychev VK, Gross RE, Lehericy S, Hess EJ, Jinnah HA. The functional neuroanatomy of dystonia. Neurobiol Dis. 2011;42(2):185-201. http://dx.doi.org/10.1016/j.nbd.2011.01.026
Quartarone A, Hallett M. Emerging concepts in the physiological basis of dystonia. Mov Disord. 2013;28(7):958-67. http://dx.doi.org10.1002/mds.25532.
Candia V, Schafer T, Taub E, Rau H, Altenmüller E, Rockstroh B, et al. Sensory motor retuning: a behavioral treatment for focal hand dystonia of pianists and guitarists. Arch Phys Med Rehabil. 2002;83(10):1342-8. http://dx.doi.org/10.1053/apmr.2002.35094
Benninger DH, Lomarev M, Lopez G, Pal N, Luckenbaugh DA, Hallett M. Transcranial direct current stimulation for the treatment of focal hand dystonia. Mov Disord.2011;26(9):1698-702. http://dx.doi.org/10.1002/mds.23691
Zeuner KE, Hallett M. Sensory training as treatment for focal hand dystonia: a 1-year follow-up. Mov Disord. 2003;18(9):1044-47. http://dx.doi.org/10.1002/mds.10490.
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