Pathophysiology of dystonia
PDF (Español)
XML (Español)

Keywords

Dystonia
pathophysiology
physiology (MeSH)

Abstract

Despite recent and relevant advances in the understanding of cerebral circuits involve in dystonia, there are many gaps to allow us to fully elucidate the phenomenon. The available data is insufficient to explain the different presentation and causes involved in the genesis of dystonia.


PDF (Español)
XML (Español)

References

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.

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Downloads

Download data is not yet available.