Abercrombie ED, Bonatz AE, Zigmond MJ. Effects of L-dopa on extracellular dopamine in striatum of normal and 6-hydroxydopamine-treated rats. Brain Res. 1990;525:36–44.
Article
CAS
PubMed
Google Scholar
Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28:863–73. doi:10.1002/mds.25475.
Article
PubMed
PubMed Central
Google Scholar
Asanuma K, Ma Y, Okulski J, Dhawan V, Chaly T, Carbon M, Bressman SB, Eidelberg D. Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation. Neurology. 2005;64:347–9. doi:10.1212/01.wnl.0000149764.34953.bf.
Article
CAS
PubMed
Google Scholar
Augood SJ, Hollingsworth Z, Albers DS, Yang L, Leung JC, Muller B, Klein C, Breakefield XO, Standaert DG. Dopamine transmission in DYT1 dystonia: a biochemical and autoradiographical study. Neurology. 2002;59:445–8.
Article
CAS
PubMed
Google Scholar
Balcioglu A, Kim MO, Sharma N, Cha JH, Breakefield XO, Standaert DG. Dopamine release is impaired in a mouse model of DYT1 dystonia. J Neurochem. 2007;102:783–8. doi:10.1111/j.1471-4159.2007.04590.x.
Article
CAS
PubMed
Google Scholar
Bode N, Massey C, Gonzalez-Alegre P. DYT1 knock-in mice are not sensitized against mitochondrial complex-II inhibition. PLoS One. 2012;7:e42644. doi:10.1371/journal.pone.0042644.
Article
CAS
PubMed
PubMed Central
Google Scholar
Calabresi P, Picconi B, Tozzi A, Ghiglieri V, Di Filippo M. Direct and indirect pathways of basal ganglia: a critical reappraisal. Nat Neurosci. 2014;17:1022–30. doi:10.1038/nn.3743.
Article
CAS
PubMed
Google Scholar
Calderon DP, Fremont R, Kraenzlin F, Khodakhah K. The neural substrates of rapid-onset Dystonia-Parkinsonism. Nat Neurosci. 2011;14:357–65.
Article
CAS
PubMed
PubMed Central
Google Scholar
Carbon M, Su S, Dhawan V, Raymond D, Bressman S, Eidelberg D. Regional metabolism in primary torsion dystonia: effects of penetrance and genotype. Neurology. 2004;62:1384–90.
Article
CAS
PubMed
Google Scholar
Cenci MA. Presynaptic Mechanisms of l-DOPA-Induced Dyskinesia: The Findings, the Debate, and the Therapeutic Implications. Front Neurol. 2014;5:242. doi:10.3389/fneur.2014.00242.
Article
PubMed
PubMed Central
Google Scholar
Chen YI, Ren J, Wang FN, Xu H, Mandeville JB, Kim Y, Rosen BR, Jenkins BG, Hui KK, Kwong KK. Inhibition of stimulated dopamine release and hemodynamic response in the brain through electrical stimulation of rat forepaw. Neurosci Lett. 2008;431:231–5. doi:10.1016/j.neulet.2007.11.063.
Article
CAS
PubMed
Google Scholar
Cohens J. Statistical Power Analysis for the Behavioral Sciences. 1988. L Erlbaum Associates.
Google Scholar
Corvol JC, Studler JM, Schonn JS, Girault JA, Herve D. Galpha(olf) is necessary for coupling D1 and A2a receptors to adenylyl cyclase in the striatum. J Neurochem. 2001;76:1585–8.
Article
CAS
PubMed
Google Scholar
Dang MT, Yokoi F, McNaught KS, Jengelley TA, Jackson T, Li J, Li Y. Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia. Exp Neurol. 2005;196:452–63. doi:10.1016/j.expneurol.2005.08.025.
Article
CAS
PubMed
Google Scholar
Dang MT, Yokoi F, Pence MA, Li Y. Motor deficits and hyperactivity in Dyt1 knockdown mice. Neurosci Res. 2006;56:470–4. doi:10.1016/j.neures.2006.09.005.
Article
CAS
PubMed
PubMed Central
Google Scholar
Eidelberg D, Moeller JR, Antonini A, Kazumata K, Nakamura T, Dhawan V, Spetsieris P, DeLeon D, Bressman SB, Fahn S. Functional brain networks in DYT1 dystonia. Ann Neurol. 1998;44:303–12. doi:10.1002/ana.410440304.
Article
CAS
PubMed
Google Scholar
Furukawa Y, Hornykiewicz O, Fahn S, Kish SJ. Striatal dopamine in early-onset primary torsion dystonia with the DYT1 mutation. Neurology. 2000;54:1193–5.
Article
CAS
PubMed
Google Scholar
Garibotto V, Romito LM, Elia AE, Soliveri P, Panzacchi A, Carpinelli A, Tinazzi M, Albanese A, Perani D. In vivo evidence for GABA(A) receptor changes in the sensorimotor system in primary dystonia. Mov Disord. 2011;26:852–7. doi:10.1002/mds.23553.
Article
PubMed
Google Scholar
Goodchild RE, Kim CE, Dauer WT. Loss of the dystonia-associated protein TorsinA selectively disrupts the neuronal nuclear envelope. Neuron. 2005;48:923–32.
Article
CAS
PubMed
Google Scholar
Grundmann K, Glöckle N, Martella G, Sciamanna G, Hauser T-K, Yu L, Castaneda S, Pichler B, Fehrenbacher B, Schaller M, et al. Generation of a novel rodent model for DYT1 dystonia. Neurobiol Dis. 2012;47:61–74. http://dx.doi.org/10.1016/j.nbd.2012.03.024.
Article
CAS
PubMed
Google Scholar
Grundmann K, Reischmann B, Vanhoutte G, Hubener J, Teismann P, Hauser TK, Bonin M, Wilbertz J, Horn S, Nguyen HP, et al. Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities. Neurobiol Dis. 2007;27:190–206. doi:10.1016/j.nbd.2007.04.015.
Article
CAS
PubMed
Google Scholar
Hamann M, Richter A. Effects of striatal injections of GABA(A) receptor agonists and antagonists in a genetic animal model of paroxysmal dystonia. Eur J Pharmacol. 2002;443:59–70.
Article
CAS
PubMed
Google Scholar
Haslinger B, Altenmuller E, Castrop F, Zimmer C, Dresel C. Sensorimotor overactivity as a pathophysiologic trait of embouchure dystonia. Neurology. 2010;74:1790–7. doi:10.1212/WNL.0b013e3181e0f784.
Article
CAS
PubMed
Google Scholar
Jankovic J, Van der Linden C. Dystonia and tremor induced by peripheral trauma: predisposing factors. J Neurol Neurosurg Psychiatry. 1988;51:1512–9.
Article
CAS
PubMed
PubMed Central
Google Scholar
Jinnah HA, Hess EJ. Experimental Therapeutics for Dystonia. Neurotherapeutics. 2008;5:198–209. doi:10.1016/j.nurt.2008.01.001.
Article
CAS
PubMed
PubMed Central
Google Scholar
Jinnah HA, Hess EJ, Ledoux MS, Sharma N, Baxter MG, Delong MR. Rodent models for dystonia research: characteristics, evaluation, and utility. Mov Disord. 2005;20:283–92. doi:10.1002/mds.20364.
Article
CAS
PubMed
Google Scholar
Knappskog PM, Flatmark T, Mallet J, Ludecke B, Bartholome K. Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet. 1995;4:1209–12.
Article
CAS
PubMed
Google Scholar
Kramer PL, Heiman GA, Gasser T, Ozelius LJ, de Leon D, Brin MF, Burke RE, Hewett J, Hunt AL, Moskowitz C, et al. The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. Am J Hum Genet. 1994;55:468–75.
CAS
PubMed
PubMed Central
Google Scholar
Krieger F, Elflein N, Saenger S, Wirthgen E, Rak K, Frantz S, Hoeflich A, Toyka KV, Metzger F, Jablonka S. Polyethylene glycol-coupled IGF1 delays motor function defects in a mouse model of spinal muscular atrophy with respiratory distress type 1. Brain. 2014;137:1374–93. doi:10.1093/brain/awu059.
Article
PubMed
Google Scholar
Kumar H, Jog M. Peripheral trauma induced dystonia or post-traumatic syndrome? Can J Neurol Sci. 2011;38:22–9.
Article
PubMed
Google Scholar
Liang CC, Tanabe LM, Jou S, Chi F, Dauer WT. TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration. J Clin Invest. 2014;124:3080–92. doi:10.1172/JCI72830.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lohmann K, Klein C. Genetics of dystonia: what’s known? What’s new? What’s next? Mov Disord. 2013;28:899–905. doi:10.1002/mds.25536.
Article
CAS
PubMed
Google Scholar
Martella G, Maltese M, Nisticò R, Schirinzi T, Madeo G, Sciamanna G, Ponterio G, Tassone A, Mandolesi G, Vanni V, et al. Regional specificity of synaptic plasticity deficits in a knock-in mouse model of DYT1 dystonia. Neurobiol Dis. 2014;65:124–32. http://dx.doi.org/10.1016/j.nbd.2014.01.016.
Article
CAS
PubMed
Google Scholar
Napolitano F, Pasqualetti M, Usiello A, Santini E, Pacini G, Sciamanna G, Errico F, Tassone A, Di Dato V, Martella G, et al. Dopamine D2 receptor dysfunction is rescued by adenosine A2A receptor antagonism in a model of DYT1 dystonia. Neurobiol Dis. 2010;38:434–45. http://dx.doi.org/10.1016/j.nbd.2010.03.003.
Article
CAS
PubMed
PubMed Central
Google Scholar
Naumann M, Pirker W, Reiners K, Lange KW, Becker G, Brucke T. Imaging the pre- and postsynaptic side of striatal dopaminergic synapses in idiopathic cervical dystonia: a SPECT study using [123I] epidepride and [123I] beta-CIT. Mov Disord. 1998;13:319–23. doi:10.1002/mds.870130219.
Article
CAS
PubMed
Google Scholar
Navarro X, Vivó M, Valero-Cabré A. Neural plasticity after peripheral nerve injury and regeneration. Prog Neurobiol. 2007;82:163–201. http://dx.doi.org/10.1016/j.pneurobio.2007.06.005.
Article
CAS
PubMed
Google Scholar
Neychev VK, Gross RE, Lehericy S, Hess EJ, Jinnah HA. The functional neuroanatomy of dystonia. Neurobiol Dis. 2011;42:185–201. doi:10.1016/j.nbd.2011.01.026.
Article
PubMed
PubMed Central
Google Scholar
Pappas SS, Darr K, Holley SM, Cepeda C, Mabrouk OS, Wong JM, LeWitt TM, Paudel R, Houlden H, Kennedy RT, et al. Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons. Elife. 2015;4:e08352. doi:10.7554/eLife.08352.
Article
PubMed
PubMed Central
Google Scholar
Paudel R, Kiely A, Li A, Lashley T, Bandopadhyay R, Hardy J, Jinnah HA, Bhatia K, Houlden H, Holton JL. Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. Acta Neuropathol Commun. 2014;2:159. doi:10.1186/s40478-014-0159-x.
Article
PubMed
PubMed Central
Google Scholar
Pelled G, Chuang K-H, Dodd SJ, Koretsky AP. Functional MRI detection of bilateral cortical reorganization in the rodent brain following peripheral nerve deafferentation. Neuroimage. 2007;37:262–73. doi:10.1016/j.neuroimage.2007.03.069.
Article
PubMed
PubMed Central
Google Scholar
Perlmutter JS, Stambuk MK, Markham J, Black KJ, McGee-Minnich L, Jankovic J, Moerlein SM. Decreased [18 F]spiperone binding in putamen in idiopathic focal dystonia. J Neurosci. 1997;17:843–50.
CAS
PubMed
Google Scholar
Phukan J, Albanese A, Gasser T, Warner T. Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis. Lancet Neurol. 2011;10:1074–85. doi:10.1016/S1474-4422(11)70232-0.
Article
PubMed
Google Scholar
Playford ED, Fletcher NA, Sawle GV, Marsden CD, Brooks DJ. Striatal [18 F]dopa uptake in familial idiopathic dystonia. Brain. 1993;116(Pt 5):1191–9.
Article
PubMed
Google Scholar
Quartarone A, Bagnato S, Rizzo V, Siebner HR, Dattola V, Scalfari A, Morgante F, Battaglia F, Romano M, Girlanda P. Abnormal associative plasticity of the human motor cortex in writer’s cramp. Brain. 2003;126:2586–96.
Article
PubMed
Google Scholar
Rostasy K, Augood SJ, Hewett JW, Leung JC-o, Sasaki H, Ozelius LJ, Ramesh V, Standaert DG, Breakefield XO, Hedreen JC. TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol Dis. 2003;12:11–24. http://dx.doi.org/10.1016/S0969-9961(02)00010-4.
Article
CAS
PubMed
Google Scholar
Schicatano EJ, Basso MA, Evinger C. Animal model explains the origins of the cranial dystonia benign essential blepharospasm. J Neurophysiol. 1997;77:2842–6.
CAS
PubMed
Google Scholar
Sciamanna G, Bonsi P, Tassone A, Cuomo D, Tscherter A, Viscomi MT, Martella G, Sharma N, Bernardi G, Standaert DG, et al. Impaired striatal D2 receptor function leads to enhanced GABA transmission in a mouse model of DYT1 dystonia. Neurobiol Dis. 2009;34:133–45. doi:10.1016/j.nbd.2009.01.001.
Article
CAS
PubMed
PubMed Central
Google Scholar
Sciamanna G, Tassone A, Martella G, Mandolesi G, Puglisi F, Cuomo D, Madeo G, Ponterio G, Standaert DG, Bonsi P, et al. Developmental profile of the aberrant dopamine D2 receptor response in striatal cholinergic interneurons in DYT1 dystonia. PLoS One. 2011;6:e24261. doi:10.1371/journal.pone.0024261.
Article
CAS
PubMed
PubMed Central
Google Scholar
Sharma N, Baxter MG, Petravicz J, Bragg DC, Schienda A, Standaert DG, Breakefield XO. Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation. J Neurosci. 2005;25:5351–5. doi:10.1523/JNEUROSCI.0855-05.2005.
Article
CAS
PubMed
Google Scholar
Shashidharan P, Sandu D, Potla U, Armata IA, Walker RH, McNaught KS, Weisz D, Sreenath T, Brin MF, Olanow CW. Transgenic mouse model of early-onset DYT1 dystonia. Hum Mol Genet. 2005;14:125–33. doi:10.1093/hmg/ddi012.
Article
CAS
PubMed
Google Scholar
Sheehy MP, Marsden CD. Trauma and pain in spasmodic torticollis. Lancet. 1980;1:777–8.
Article
CAS
PubMed
Google Scholar
Szczesna K, de la Caridad O, Petazzi P, Soler M, Roa L, Saez MA, Fourcade S, Pujol A, Artuch-Iriberri R, Molero-Luis M, et al. Improvement of the rett syndrome phenotype in a mecp2 mouse model upon treatment with levodopa and a dopa-decarboxylase inhibitor. Neuropsychopharmacology. 2014;39:2846–56. doi:10.1038/npp.2014.136.
Article
CAS
PubMed
PubMed Central
Google Scholar
Tanabe LM, Martin C, Dauer WT. Genetic background modulates the phenotype of a mouse model of DYT1 dystonia. PLoS One. 2012;7:e32245. doi:10.1371/journal.pone.0032245.
Article
CAS
PubMed
PubMed Central
Google Scholar
Torres GE, Sweeney AL, Beaulieu JM, Shashidharan P, Caron MG. Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant. Proc Natl Acad Sci U S A. 2004;101:15650–5. doi:10.1073/pnas.0308088101.
Article
CAS
PubMed
PubMed Central
Google Scholar
van Enkhuizen J, Geyer MA, Halberstadt AL, Zhuang X, Young JW. Dopamine depletion attenuates some behavioral abnormalities in a hyperdopaminergic mouse model of bipolar disorder. J Affect Disord. 2014;155:247–54. doi:10.1016/j.jad.2013.08.041.
Article
PubMed
Google Scholar
Vo A, Sako W, Dewey SL, Eidelberg D, Uluğ AM. 18FDG-microPET and MR DTI findings in Tor1a+/− heterozygous knock-out mice. Neurobiol Dis. 2015;73:399–406. http://dx.doi.org/10.1016/j.nbd.2014.10.020.
Article
PubMed
Google Scholar
Wu LJ, Jankovic J. Runner’s dystonia. J Neurol Sci. 2006;251:73–6. doi:10.1016/j.jns.2006.09.003.
Article
PubMed
Google Scholar
Yokoi F, Cheetham CC, Campbell SL, Sweatt JD, Li Y. Pre-synaptic release deficits in a DYT1 dystonia mouse model. PLoS One. 2013;8:e72491. doi:10.1371/journal.pone.0072491.
Article
CAS
PubMed
PubMed Central
Google Scholar
Yokoi F, Dang MT, Liu J, Gandre JR, Kwon K, Yuen R, Li Y. Decreased dopamine receptor 1 activity and impaired motor-skill transfer in Dyt1 DeltaGAG heterozygous knock-in mice. Behav Brain Res. 2015;279:202–10. doi:10.1016/j.bbr.2014.11.037.
Article
CAS
PubMed
Google Scholar