{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:25:14Z","timestamp":1761513914761},"reference-count":106,"publisher":"FapUNIFESP (SciELO)","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:p>ABSTRACT The diagnosis and treatment of dystonia are challenging. This is likely due to gaps in the complete understanding of its pathophysiology, lack of animal models for translational studies, absence of a consistent pathological substrate and highly variable phenotypes and genotypes. The aim of this review article is to provide an overview of the clinical, neurophysiological and genetic features of dystonia that can help in the identification of this movement disorder, as well as in the differential diagnosis of the main forms of genetic dystonia. The variation of penetrance, age of onset, and topographic distribution of the disease in carriers of the same genetic mutation indicates that other factors \u2013 either genetic or environmental \u2013 might be involved in the development of symptoms. The growing knowledge of cell dysfunction in mutants may give insights into more effective therapeutic targets.<\/jats:p>","DOI":"10.1590\/0004-282x20160140","type":"journal-article","created":{"date-parts":[[2016,11,26]],"date-time":"2016-11-26T21:19:15Z","timestamp":1480195155000},"page":"921-936","source":"Crossref","is-referenced-by-count":9,"title":["Understanding dystonia: diagnostic issues and how to overcome them"],"prefix":"10.1590","volume":"74","author":[{"given":"Sarah","family":"Camargos","sequence":"first","affiliation":[{"name":"Universidade Federal de Minas Gerais, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco","family":"Cardoso","sequence":"additional","affiliation":[{"name":"Universidade Federal de Minas Gerais, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/S0072-9752(08)02133-7","article-title":"Chapter 33: the history of movement disorders","volume":"95","author":"Lanska DJ","year":"2010","journal-title":"Handb Clin Neurol"},{"issue":"5","key":"ref2","doi-asserted-by":"crossref","first-page":"1552","DOI":"10.1093\/brain\/awq050","article-title":"How psychogenic is dystonia? Views from past to present","volume":"133","author":"Munts AG","year":"2010","journal-title":"Brain"},{"key":"ref3","first-page":"1","article-title":"Concept and classification of dystonia","volume":"50","author":"Fahn S","year":"1988","journal-title":"Adv Neurol"},{"issue":"1","key":"ref4","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/ng0997-40","article-title":"The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein","volume":"17","author":"Ozelius LJ","year":"1997","journal-title":"Nat Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"332","DOI":"10.5334\/tohm.272","article-title":"Early ilustrations of geste antagoniste in cervical and generalized dystonia","volume":"5","author":"Broussolle E","year":"2015","journal-title":"Tremor Other Hyperkinet Mov (N Y)"},{"key":"ref6","first-page":"101","article-title":"Dystonia genotypes, phenotypes, and classification","volume":"94","author":"Bressman SB","year":"2004","journal-title":"Adv Neurol"},{"issue":"7","key":"ref7","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1002\/mds.25475","article-title":"Phenomenology and classification of dystonia: a consensus update","volume":"28","author":"Albanese A","year":"2013","journal-title":"Mov Disord"},{"issue":"12","key":"ref8","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1002\/mds.22597","article-title":"Is this dystonia?","volume":"24","author":"Albanese A","year":"2009","journal-title":"Mov Disord"},{"issue":"4","key":"ref9","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1111\/ene.12054","article-title":"Sensory tricks in focal dystonia and hemifacial spasm","volume":"20","author":"Loyola DP","year":"2013","journal-title":"Eur J Neurol"},{"issue":"10","key":"ref10","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/j.parkreldis.2009.05.003","article-title":"Motor overflow and mirror dystonia","volume":"15","author":"Sitburana O","year":"2009","journal-title":"Parkinsonism Relat Disord"},{"issue":"4-5","key":"ref11","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1016\/j.humov.2006.05.004","article-title":"Pathophysiology of writer\u2019s cramp","volume":"25","author":"Hallett M","year":"2006","journal-title":"Hum Mov Sci"},{"issue":"4","key":"ref12","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1002\/ana.20270","article-title":"Disturbed surround inhibition in focal hand dystonia","volume":"56","author":"Sohn YH","year":"2004","journal-title":"Ann Neurol"},{"key":"ref13","article-title":"Mirror movements in movement disorders: a review","author":"Cox BC","year":"2012","journal-title":"Tremor Other Hyperkinet Mov (NY)"},{"issue":"9","key":"ref14","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1002\/mds.25925","article-title":"The pathogenesis of Pisa syndrome in Parkinson\u2019s disease","volume":"29","author":"Castrioto A","year":"2014","journal-title":"Mov Disord"},{"issue":"6","key":"ref15","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1016\/S1474-4422(11)70067-9","article-title":"Postural deformities in Parkinson\u2019s disease","volume":"10","author":"Doherty KM","year":"2011","journal-title":"Lancet Neurol"},{"issue":"10","key":"ref16","doi-asserted-by":"crossref","first-page":"2360","DOI":"10.1093\/brain\/awh262","article-title":"The syndrome of fixed dystonia: an evaluation of 103 patients","volume":"127","author":"Schrag A","year":"2004","journal-title":"Brain"},{"issue":"9","key":"ref17","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1136\/jnnp-2013-305876","article-title":"Rest and other types of tremor in adult-onset primary dystonia","volume":"85","author":"Erro R","year":"2014","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"2","key":"ref18","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1136\/jnnp-2011-300823","article-title":"Supine head tremor: a clinical comparison of essential tremor and spasmodic torticollis patients","volume":"83","author":"Agnew A","year":"2012","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"1","key":"ref19","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1002\/mds.23289","article-title":"Tremor: some controversial aspects","volume":"26","author":"Quinn NP","year":"2011","journal-title":"Mov Disord"},{"issue":"7","key":"ref20","doi-asserted-by":"crossref","first-page":"1266","DOI":"10.1002\/mds.23684","article-title":"Gait in SWEDDs patients: comparison with Parkinson\u2019s disease patients and healthy controls","volume":"26","author":"Mian OS","year":"2011","journal-title":"Mov Disord"},{"issue":"14","key":"ref21","doi-asserted-by":"crossref","first-page":"1820","DOI":"10.1002\/mds.26018","article-title":"Patients with scans without evidence of dopaminergic deficit: a long-term follow-up study","volume":"29","author":"Batla A","year":"2014","journal-title":"Mov Disord"},{"issue":"1","key":"ref22","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1093\/brain\/aws308","article-title":"SGCE mutations cause psychiatric disorders: clinical and genetic characterization","volume":"136","author":"Peall KJ1","year":"2013","journal-title":"Brain"},{"issue":"8","key":"ref23","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1136\/jnnp-2011-301386","article-title":"Cognition and psychopathology in myoclonus-dystonia","volume":"83","author":"Tricht MJ1","year":"2012","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"11","key":"ref24","doi-asserted-by":"crossref","first-page":"1168","DOI":"10.1212\/WNL.0b013e3182698d6c","article-title":"Psychiatric disorders in rapid-onset dystonia-parkinsonism","volume":"79","author":"Brashear A","year":"2012","journal-title":"Neurology"},{"issue":"4","key":"ref25","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1002\/mds.22983","article-title":"Psychiatric disorders in adult-onset focal dystonia: a case-control study","volume":"25","author":"Fabbrini G","year":"2010","journal-title":"Mov Disord"},{"issue":"2","key":"ref26","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.parkreldis.2013.10.008","article-title":"Impaired cognitive functions in adult-onset primary cranial cervical dystonia","volume":"20","author":"Romano R","year":"2014","journal-title":"Parkinsonism Relat Disord"},{"issue":"12","key":"ref27","doi-asserted-by":"crossref","first-page":"2145","DOI":"10.1016\/j.jocn.2014.03.032","article-title":"Risk factors for idiopathic dystonia in Queensland, Australia","volume":"21","author":"Newman JR","year":"2014","journal-title":"J Clin Neurosci"},{"issue":"3","key":"ref28","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1136\/jnnp-2014-307699","article-title":"An evaluation of the role of environmental factors in the disease penetrance of cervical dystonia","volume":"86","author":"Molloy A","year":"2015","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"6","key":"ref29","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1212\/01.WNL.0000049932.22065.60","article-title":"Primary cervical dystonia and scoliosis: a multicenter case control study","volume":"60","author":"Defazio G","year":"2003","journal-title":"Neurology"},{"issue":"4","key":"ref30","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1136\/jnnp-2014-310266","article-title":"Sun exposure is an environmental factor for the development of blepharospasm","volume":"87","author":"Hutchinson M","year":"2016","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"2","key":"ref31","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.jht.2008.10.008","article-title":"The pathophysiology of focal hand dystonia","volume":"22","author":"Lin PT","year":"2009","journal-title":"J Hand Ther"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"1803","DOI":"10.1002\/mds.21636","article-title":"Etiological musculo-skeletal factor in focal dystonia in a musician\u2019s hand: a case study of the right hand of a guitarist","volume":"22","author":"Leijnse JN","year":"2007","journal-title":"Mov Disord"},{"issue":"10","key":"ref33","doi-asserted-by":"crossref","first-page":"2709","DOI":"10.1093\/brain\/awl221","article-title":"The two sides of associative plasticity in writer\u2019s cramp","volume":"129","author":"Weise D","year":"2006","journal-title":"Brain"},{"issue":"9","key":"ref34","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1136\/jnnp.2007.121632","article-title":"Abnormal plasticity of sensorimotor circuits extends beyond the affected body part in focal dystonia","volume":"79","author":"Quartarone A","year":"2008","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"7","key":"ref35","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/mds.25527","article-title":"The anatomical basis of dystonia: current view using neuroimaging","volume":"28","author":"Leh\u00e9ricy S","year":"2013","journal-title":"Mov Dis"},{"issue":"9","key":"ref36","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1590\/S0004-282X2012000900013","article-title":"New algorithm for the diagnosis of hereditary dystonia","volume":"70","author":"Camargos S","year":"2012","journal-title":"Arq Neuropsiquiatr"},{"issue":"18","key":"ref37","doi-asserted-by":"crossref","first-page":"2098","DOI":"10.1002\/ajmg.a.31887","article-title":"Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites","volume":"143A","author":"Saunders-Pullman R","year":"2007","journal-title":"Am J Med Genet A"},{"issue":"6","key":"ref38","first-page":"487","article-title":"Phenotype of the DYT1 mutation in the TOR1A gene in a Polish population of patients with dystonia. A preliminary report","volume":"41","author":"Gajos A","year":"2007","journal-title":"Neurol Neurochir Pol"},{"issue":"4","key":"ref39","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1002\/ana.23547","article-title":"Mutations in CIZ1 cause adult onset primary cervical dystonia","volume":"71","author":"Xiao J","year":"2012","journal-title":"Ann Neurol"},{"issue":"1","key":"ref40","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1038\/ng.2496","article-title":"Mutations in GNAL cause primary torsion dystonia","volume":"45","author":"Fuchs T","year":"2013","journal-title":"Nature Genet"},{"issue":"6","key":"ref41","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.ajhg.2015.04.010","article-title":"Recessive mutations in the \u03b13 (VI) collagen gene COL6A3 cause early-onset isolated dystonia","volume":"96","author":"Zech M","year":"2015","journal-title":"Am J Hum Genet"},{"issue":"4","key":"ref42","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1002\/ana.23829","article-title":"Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene","volume":"73","author":"Lohmann K","year":"2013","journal-title":"Ann Neurol"},{"issue":"1","key":"ref43","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/ng709","article-title":"Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome","volume":"29","author":"Zimprich A","year":"2001","journal-title":"Nat Genet"},{"issue":"4","key":"ref44","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1002\/mds.22425","article-title":"Myoclonus-dystonia: an update","volume":"24","author":"Kinugawa K","year":"2009","journal-title":"Mov Disord"},{"issue":"6","key":"ref45","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1016\/j.ajhg.2015.04.008","article-title":"A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia","volume":"96","author":"Mencacci NE","year":"2015","journal-title":"Am J Hum Genet"},{"issue":"3","key":"ref46","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1038\/ng1194-236","article-title":"Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene","volume":"8","author":"Ichinose H","year":"1994","journal-title":"Nat Genet"},{"issue":"1","key":"ref47","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/BF00225091","article-title":"A point mutation in the tyrosine hydroxylase gene associated with Segawa\u2019s syndrome","volume":"95","author":"L\u00fcdecke B","year":"1995","journal-title":"Hum Genet"},{"issue":"2 Pt 1","key":"ref48","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1212\/WNL.41.2_Part_1.174","article-title":"Dopa-responsive dystonia: long-term treatment response and prognosis","volume":"41","author":"Nygaard TG","year":"1991","journal-title":"Neurology"},{"issue":"3","key":"ref49","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/S1474-4422(08)70022-X","article-title":"DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA","volume":"7","author":"Camargos S","year":"2008","journal-title":"Lancet Neurol"},{"issue":"6","key":"ref50","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1002\/mds.10271","article-title":"Phenomenology of \u201cLubag\u201d or X-linked dystonia-parkinsonism","volume":"17","author":"Evidente VG","year":"2002","journal-title":"Mov Disord"},{"issue":"2","key":"ref51","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.neuron.2004.06.028","article-title":"Mutations in the Na(+)\/K(+)-ATPase alpha-3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism","volume":"43","author":"Aguiar PC","year":"2004","journal-title":"Neuron"},{"issue":"6","key":"ref52","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1172\/JCI34438","article-title":"GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak","volume":"118","author":"Weber YG","year":"2008","journal-title":"J Clin Invest"},{"issue":"7","key":"ref53","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/j.braindev.2009.02.008","article-title":"The expanding phenotype of GLUT1-deficiency syndrome","volume":"31","author":"Brockmann K","year":"2009","journal-title":"Brain Dev"},{"issue":"3","key":"ref54","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s004150050325","article-title":"The paroxysmal dyskinesias","volume":"246","author":"Bhatia KP","year":"1999","journal-title":"J Neurol"},{"issue":"1","key":"ref55","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.celrep.2011.11.001","article-title":"Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions","volume":"1","author":"Lee HY","year":"2012","journal-title":"Cell Reports"},{"issue":"21","key":"ref56","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.1212\/01.wnl.0000262029.91552.e0","article-title":"Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia","volume":"68","author":"Bruno MK","year":"2007","journal-title":"Neurology"},{"issue":"6","key":"ref57","doi-asserted-by":"crossref","first-page":"1596","DOI":"10.1111\/j.1471-4159.2009.06095.x","article-title":"TorsinA and dystonia: from nuclear envelope to synapse","volume":"109","author":"Granata A","year":"2009","journal-title":"J Neurochem"},{"issue":"18","key":"ref58","doi-asserted-by":"crossref","first-page":"3502","DOI":"10.1093\/hmg\/ddq266","article-title":"The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response","volume":"19","author":"Chen P","year":"2010","journal-title":"Hum Mol Genet"},{"issue":"3","key":"ref59","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1073\/pnas.0304375101","article-title":"Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation","volume":"101","author":"Goodchild RE","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"issue":"12","key":"ref60","doi-asserted-by":"crossref","first-page":"7568","DOI":"10.1074\/jbc.M704097200","article-title":"The dystonia-associated protein torsinA modulates synaptic vesicle recycling","volume":"283","author":"Granata A","year":"2008","journal-title":"J Biol Chem"},{"issue":"5","key":"ref61","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1007\/s12192-010-0173-2","article-title":"The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro","volume":"15","author":"Burdette AJ","year":"2010","journal-title":"Cell Stress Chaperones"},{"issue":"20","key":"ref62","doi-asserted-by":"crossref","first-page":"3476","DOI":"10.1242\/jcs.029454","article-title":"TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton","volume":"121","author":"Nery FC","year":"2008","journal-title":"J Cell Sci"},{"issue":"2","key":"ref63","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.nbd.2010.11.015","article-title":"Molecular pathways in dystonia","volume":"42","author":"Bragg DC","year":"2011","journal-title":"Neurobiol Dis"},{"issue":"3","key":"ref64","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1016\/j.neuroscience.2009.09.017","article-title":"Mutant torsinA interacts with tyrosine hydroxylase in cultured cells","volume":"164","author":"O\u2019Farrell CA","year":"2009","journal-title":"Neuroscience"},{"issue":"6","key":"ref65","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1001\/archneur.58.6.921","article-title":"Cellular distribution of torsin A and torsin B in normal human brain","volume":"58","author":"Konakova M","year":"2001","journal-title":"Arch Neurol"},{"issue":"3","key":"ref66","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/ng.304","article-title":"Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia","volume":"41","author":"Fuchs T","year":"2009","journal-title":"Nat Genet"},{"issue":"16","key":"ref67","doi-asserted-by":"crossref","first-page":"2432","DOI":"10.1038\/sj.onc.1206271","article-title":"THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par4) to PML nuclear bodies","volume":"22","author":"Roussigne M","year":"2003","journal-title":"Oncogene"},{"issue":"2","key":"ref68","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1182\/blood-2006-03-012013","article-title":"The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB\/E2F cell-cycle target genes","volume":"109","author":"Cayrol C","year":"2007","journal-title":"Blood"},{"issue":"3","key":"ref69","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1086\/512129","article-title":"Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism","volume":"80","author":"Makino S","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"18","key":"ref70","doi-asserted-by":"crossref","first-page":"13364","DOI":"10.1074\/jbc.M109.072579","article-title":"The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias","volume":"285","author":"Mazars R","year":"2010","journal-title":"J Biol Chem"},{"issue":"2","key":"ref71","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.nbd.2007.04.015","article-title":"Overexpression of human wildtype type torsinA and human Delta GAG torsinA in a transgenic mouse model causes phenotypic abnormalities","volume":"27","author":"Grundmann K","year":"2007","journal-title":"Neurobiol Dis"},{"issue":"12","key":"ref72","doi-asserted-by":"crossref","first-page":"1504","DOI":"10.1002\/mds.25981","article-title":"DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family","volume":"29","author":"Zech M","year":"2014","journal-title":"Mov Disord"},{"issue":"1","key":"ref73","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1042\/bj20020204","article-title":"The C-terminal, third conserved motif of the protein activator PACT plays an essential role in the activation of double-stranded-RNA-dependent protein kinase (PKR)","volume":"366","author":"Huang X","year":"2002","journal-title":"Biochem J"},{"issue":"21","key":"ref74","doi-asserted-by":"crossref","first-page":"4550","DOI":"10.1021\/bi200104h","article-title":"Stress-induced phosphorylation of PACT reduces its interaction with TRBP and leads to PKR activation","volume":"50","author":"Singh M","year":"2011","journal-title":"Biochemistry"},{"issue":"37","key":"ref75","doi-asserted-by":"crossref","first-page":"22543","DOI":"10.1074\/jbc.M115.669408","article-title":"Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT","volume":"290","author":"Vaughn LS","year":"2015","journal-title":"J Biol Chem"},{"issue":"7","key":"ref76","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1002\/mds.25552","article-title":"Medical treatment of dystonia","volume":"28","author":"Jankovic J","year":"2013","journal-title":"Mov Disord"},{"issue":"1","key":"ref77","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1002\/ana.410110108","article-title":"Treatment of hyperkinetic movement disorders with tetrabenazine: a double-blind crossover study","volume":"11","author":"Jankovic J","year":"1982","journal-title":"Ann Neurol"},{"issue":"3","key":"ref78","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1017\/S0317167100044139","article-title":"Anticholinergics in adult-onset focal dystonia","volume":"9","author":"Lang AE","year":"1982","journal-title":"Can J Neurol Sci"},{"issue":"2","key":"ref79","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1212\/WNL.34.2.215","article-title":"Cranial dystonia: double-blind crossover study of anticholinergics","volume":"34","author":"Nutt JG","year":"1984","journal-title":"Neurology"},{"issue":"5","key":"ref80","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1212\/WNL.35.5.766","article-title":"Lisuride in dystonia","volume":"35","author":"Quinn NP","year":"1985","journal-title":"Neurology"},{"issue":"8","key":"ref81","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.1212\/WNL.35.8.1242","article-title":"Lisuride treatment of focal dystonias","volume":"35","author":"Nutt JG","year":"1985","journal-title":"Neurology"},{"issue":"4","key":"ref82","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1097\/00002826-198512000-00003","article-title":"Dystonia: treatment with bromocriptine","volume":"8","author":"Newman RP","year":"1985","journal-title":"Clin Neuropharmacol"},{"issue":"2","key":"ref83","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1212\/WNL.36.2.160","article-title":"Torsion dystonia: a double-blind, prospective trial of high-dosage trihexyphenidyl","volume":"36","author":"Burke RE","year":"1986","journal-title":"Neurology"},{"issue":"1","key":"ref84","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1212\/WNL.36.1.98","article-title":"Double-blind study of oral gamma-vinyl GABA in the treatment of dystonia","volume":"36","author":"Carella F","year":"1986","journal-title":"Neurology"},{"issue":"4","key":"ref85","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1176\/ajp.147.4.445","article-title":"Clonazepam treatment of tardive dyskinesia: a practical GABAmimetic strategy","volume":"147","author":"Thaker GK","year":"1990","journal-title":"Am J Psychiatry"},{"issue":"4","key":"ref86","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1212\/WNL.46.4.1066","article-title":"Botulinum toxin versus trihexyphenidyl in cervical dystonia: a prospective, randomized, double-blind controlled trial","volume":"46","author":"Brans JW","year":"1996","journal-title":"Neurology"},{"issue":"1","key":"ref87","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1097\/00002826-198802000-00007","article-title":"Pharmacological study in Meige\u2019s syndrome with predominant blepharospasm","volume":"11","author":"Ransmayr G","year":"1988","journal-title":"Clin Neuropharmacol"},{"issue":"5","key":"ref88","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1136\/jnnp.52.5.631","article-title":"Selective D-1 dopamine receptor agonist effects in hyperkinetic extrapyramidal disorders","volume":"52","author":"Braun A","year":"1989","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"1","key":"ref89","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0003-9993(99)90301-5","article-title":"Long-term continuously infused intrathecal baclofen for spastic-dystonic hypertonia in traumatic brain injury: 1-year experience","volume":"80","author":"Meythaler JM","year":"1999","journal-title":"Arch Phys Med Rehabil"},{"issue":"1","key":"ref90","first-page":"38","article-title":"Beneficial effects of diphenhydramine in dystonia","volume":"59","author":"Gra\u00f1ana N","year":"1999","journal-title":"Medicina (B Aires)"},{"issue":"2","key":"ref91","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1177\/0883073808322668","article-title":"Pilot study on trihexyphenidyl in the treatment of dystonia in children with cerebral palsy","volume":"24","author":"Rice J","year":"2009","journal-title":"J Child Neurol"},{"issue":"2","key":"ref92","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.baga.2011.04.002","article-title":"Cannabinoid, CB1 agonists in cervical dystonia: failure in a phase IIa randomized controlled trial","volume":"1","author":"Zadikoff C","year":"2011","journal-title":"Basal Ganglia"},{"issue":"1","key":"ref93","doi-asserted-by":"crossref","DOI":"10.1186\/1471-2431-13-175","article-title":"Intrathecal baclofen treatment in dystonic cerebral palsy: a randomized clinical trial: the IDYS trial","volume":"13","author":"Bonouvri\u00e9 LA","year":"2013","journal-title":"BMC Pediatr"},{"issue":"4","key":"ref94","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1177\/0883073812473645","article-title":"Levodopa does not improve function in individuals with dystonic cerebral palsy","volume":"29","author":"Pozin I","year":"2014","journal-title":"J Child Neurol"},{"issue":"13","key":"ref95","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.1002\/mds.26009","article-title":"A Anticholinergic drugs rescue synaptic plasticity in DYT1 dystonia: Role of M1muscarinic receptors","volume":"29","author":"Maltese M","year":"2014","journal-title":"Mov Dis"},{"key":"ref96","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.nbd.2014.01.016","article-title":"Regional specificity of synaptic plasticity deficits in a knock-in mouse model of DYT1 dystonia","volume":"65","author":"Martella G","year":"2014","journal-title":"Neurobiol Dis"},{"issue":"6","key":"ref97","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1111\/j.1468-1331.2004.00845.x","article-title":"Efficacy of pharmacological treatment of dystonia: evidence-based review including meta-analysis of the effect of botulinum toxin and other cure options","volume":"11","author":"Balash Y","year":"2004","journal-title":"Eur J Neurol"},{"key":"ref98","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.toxicon.2012.12.004","article-title":"Evidence-based review and assessment of botulinum neurotoxin for the treatment of movement disorders","volume":"67","author":"Hallet M","year":"2013","journal-title":"Toxicon"},{"issue":"46","key":"ref99","first-page":"1982","article-title":"New stereotactic treatment of spasmodic torticollis with a brain stimulation system","volume":"72","author":"Mundinger F","year":"1977","journal-title":"Med Klin"},{"issue":"4","key":"ref100","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1212\/WNL.53.4.871","article-title":"Globus pallidus deep brain stimulation for generalized dystonia: clinical and PET investigation","volume":"53","author":"Kumar R","year":"1999","journal-title":"Neurology"},{"issue":"9","key":"ref101","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1136\/jnnp-2011-301714","article-title":"Deep brain stimulation for dystonia","volume":"84","author":"Vidailhet M","year":"2013","journal-title":"Neurol Neurosurg Psychiatry"},{"issue":"1","key":"ref102","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1227\/01.neu.0000429841.84083.c8","article-title":"Deep brain stimulation in DYT1 dystonia: a 10-year experience","volume":"73","author":"Panov F","year":"2013","journal-title":"Neurosurgery"},{"issue":"3","key":"ref103","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/mds.22802","article-title":"Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: An open-label study","volume":"25","author":"Cif L","year":"2010","journal-title":"Mov Disord"},{"key":"ref104","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.clineuro.2015.05.017","article-title":"Deep anterior cerebellar stimulation reduces symptoms of secondary dystonia in patients with cerebral palsy treated due to spasticity","volume":"135","author":"Sokal P","year":"2015","journal-title":"Clin Neurol Neurosurg"},{"issue":"6","key":"ref105","doi-asserted-by":"crossref","first-page":"1537","DOI":"10.3171\/2013.8.JNS13844","article-title":"A randomized double-blind crossover trial comparing subthalamic and pallidal deep brain stimulation for dystonia","volume":"119","author":"Schjerling L","year":"2013","journal-title":"J Neurosurg"},{"issue":"4","key":"ref106","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1136\/jnnp-2014-307942","article-title":"Effect of subthalamic nucleus deep brain stimulation on dual-task cognitive and motor performance in isolated dystonia","volume":"86","author":"Mills KA","year":"2015","journal-title":"J Neurol Neurosurg Psychiatry"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/anp\/v74n11\/0004-282X-anp-74-11-0921.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,27]],"date-time":"2020-09-27T14:39:07Z","timestamp":1601217547000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-282X2016001100921&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11]]},"references-count":106,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["S0004-282X2016001100921"],"URL":"https:\/\/doi.org\/10.1590\/0004-282x20160140","relation":{},"ISSN":["0004-282X"],"issn-type":[{"value":"0004-282X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11]]}}}