New approaches to discovering drugs that treat dystonia

References

• Balint B, Bhatia KP. Dystonia: an update on phenomenology, classification, pathogenesis and treatment. Curr Opin Neurol. 2014;27:468–476.
   PubMed Web of Science ®Google Scholar
• Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: A consensus update. Mov Disord. 2013;28:863–873.
   PubMed Web of Science ®Google Scholar
• Jinnah HA, Albanese A. The new classification for the dystonias: why was it needed and how was it accomplished? Mov Disord Clin Pract. 2014;1:280–284.
   PubMedGoogle Scholar
• Steeves TD, Day L, Dykeman J, et al. The prevalence of primary dystonia: a systematic review and meta-analysis. Mov Disord. 2012;27:1789–1796.
   PubMedGoogle Scholar
• Lewis L, Butler A, Jahanshahi M. Depression in focal, segmental and generalized dystonia. J Neurol. 2008;255:1750–1755.
   PubMed Web of Science ®Google Scholar
• Berman BD, Junker J, Shelton E, et al. Psychiatric associations of adult-onset focal dystonia phenotypes. J Neurol Neurosurg Psychiatry. 2017;88:595–602.
   PubMed Web of Science ®Google Scholar
• Contarino MF, van Den Dool J, Balash Y, et al. Clinical practice: evidence-based recommendations for the treatment of cervical dystonia with botulinum toxin. Front Neurol. 2017 cited 2017 Feb 24;8:35.
   PubMed Web of Science ®Google Scholar
• Jankovic J. Botulinum toxin: state of the art. Mov Disord. 2017;32: 1131–1138. PMID: 28639368.
   PubMed Web of Science ®Google Scholar
• Pirio Richardson S, Wegele AR, Skipper B, et al. Dystonia treatment: patterns of medication use in an international cohort. Neurology. 2017;88:543–550.
   PubMed Web of Science ®Google Scholar
• Skogseid IM, Kerty E. The course of cervical dystonia and patient satisfaction with long-term botulinum toxin A treatment. Eur J Neurol. 2005;12:163–170.
   PubMed Web of Science ®Google Scholar
• Gardner AP, Barbieri JT. Light chain diversity among the botulinum neurotoxins. Toxins (Basel). 2018;10:pii: E268.
   PubMed Web of Science ®Google Scholar
• Fonfria E, Maignel J, Lezmi S, et al. The expanding therapeutic utility of botulinum neurotoxins. J Neurol. 2019;266:1549–1551.
   PubMedGoogle Scholar
• Rare diseases: common issues in drug development: Guidance for Industry. Draft Guidance. U.S. Department of Health and Human Services, Food and Drug Administration, Center for Drug Evaluation and Research, Center for Biologics Evaluation and Research. 2019 February, Rare Diseases, Revision 1.
   Google Scholar
• Jinnah HA, Comella CL, Perlmutter J, et al. Longitudinal studies of botulinum toxin in cervical dystonia: why do patients discontinue therapy? Toxicon. 2018;147:89–95.
   PubMed Web of Science ®Google Scholar
• Comella C, Bhatia K. An international survey of patients with cervical dystonia. J Neurol. 2015;262:837–848.
   PubMed Web of Science ®Google Scholar
• Cordivari C, Misra VP, Vincent A, et al. Secondary nonresponsiveness to botulinum toxin A in cervical dystonia: the role of electromyogram-guided injections, botulinum toxin A antibody assay, and the extensor digitorum brevis test. Mov Disord. 2006;21:1737–1741.
   PubMed Web of Science ®Google Scholar
• Jinnah HA, Goodmann E, Rosen AR, et al. Botulinum toxin treatment failures in cervical dystonia: causes, management, and outcomes. J Neurol. 2016;263:1188–1194.
   PubMed Web of Science ®Google Scholar
• Nijmeijer SW, Koelman JH, Standaar TS, et al. Cervical dystonia: improved treatment response to botulinum toxin after referral to a tertiary centre and the use of polymyography. Park Relat Disord. 2016;19:533–538.
   Google Scholar
• Albanese A, Romito LM, Calandrella D. Therapeutic advances in dystonia. Mov Disord. 2015;30:1547–1556.
   PubMed Web of Science ®Google Scholar
• Aj E, Trosch R, Suarez G, et al. Minimal clinically important change in the toronto western spasmodic torticollis rating scale. Parkinsonism Relat Disord. 2018 Jul;52:94–97. Epub 2018 Mar.
   PubMed Web of Science ®Google Scholar
• Fahn S. High dosage anticholinergic therapy in dystonia. Neurology. 1983;33:1255–1261.
   PubMed Web of Science ®Google Scholar
• Burke RE, Fahn S, Marsden CD. Torsion dystonia: a double-blind, prospective trial of high-dosage trihexyphenidyl. Neurology. 1986;36:160–164.
   PubMed Web of Science ®Google Scholar
• Jankovic J. Medical treatment of dystonia. Mov Disord. 2013;28:1001–1012.
   PubMed Web of Science ®Google Scholar
• Eskow Jaunarajs KL, Bonsi P, Chesselet MF, et al. Striatal cholinergic dysfunction as a unifying theme in the pathophysiology of dystonia. Prog Neurobiol. 2015;127–128;91–107.
   PubMed Web of Science ®Google Scholar
• Quartarone A, Hallett M. Emerging concepts in the physiological basis of dystonia. Mov Disord. 2013;28:958–967.
   PubMed Web of Science ®Google Scholar
• Martella G, Tassone A, Sciamanna G, et al. Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine. Brain. 2009;132:2336–2349.
   PubMed Web of Science ®Google Scholar
• Meringolo M, Tassone A, Imbriani P, et al. Dystonia: are animal models relevant in therapeutics? Rev Neurol (Paris). 2018;174:608–614.
   PubMed Web of Science ®Google Scholar
• Randakova A, Rudajev V, Dolezal V, et al. Novel long-acting antagonists of muscarinic ACh receptors. Br J Pharmacol. 2018;175:1731–1743.
   PubMed Web of Science ®Google Scholar
• Bonner TI. The molecular basis of muscarinic receptor diversity. Trends Neurosci. 1989;12:148–151.
   PubMed Web of Science ®Google Scholar
• Maltese M, Martella G, Madeo G, et al. Anticholinergic drugs rescue synaptic plasticity in DYT1 dystonia: role of M1 muscarinic receptors. Mov Disord. 2014;29:1655–1665.
   PubMed Web of Science ®Google Scholar
• Ulrik CS. Once‐daily glycopyrronium bromide, a long‐acting muscarinic antagonist, for chronic obstructive pulmonary disease: a systematic review of clinical benefit. Int J Chron Obstruct Pulmon Dis. 2012;7:673–678.
   PubMed Web of Science ®Google Scholar
• Heusler P, Cussac D, Naline E, et al. Characterization of V0162, a new long‐acting antagonist at human M3 muscarinic acetylcholine receptors. Pharmacol Res. 2015;100:117–126.
   PubMed Web of Science ®Google Scholar
• Wijemanne S, Jankovic J. Dopa-responsive dystonia: clinical and genetic heterogeneity. Nat Rev Neurol. 2015;11:414–424.
   PubMed Web of Science ®Google Scholar
• Jocson A, Lew M. Use of botulinum toxin in Parkinson’s disease. Parkinsonism Relat Disord. 2018 Dec 11:pii: S1353-8020(18)30528–5. Epub ahead of print. DOI:10.1016/j.parkreldis.2018.12.002.
   PubMedGoogle Scholar
• Laurencin C, Montaut S, Vial C, et al. Toe dystonia in Parkinson’s disease: impact of subthalamic nucleus deep brain stimulation. J Neurol Sci. 2018;392:65–68.
   PubMed Web of Science ®Google Scholar
• Margolius A, Fernandez HH. Current treatment of tardive dyskinesia. Parkinsonism Relat Disord. 2018 Dec 19:pii: S1353–8020(18)30556-X. Epub ahead of print. DOI:10.1016/j.parkreldis.2018.12.022.
   Web of Science ®Google Scholar
• Song C-H, Fan X, Exeter CJ, et al. Functional analysis of dopaminergic systems in a DYT1 knock-in mouse model of dystonia. Neurobiol Dis. 2012;48:66–78.
   PubMed Web of Science ®Google Scholar
• Fan X, Donsanta Y, Jinnah HA, et al. Dopamine receptor agonist treatment of idiopathic dystonia: a reappraisal in humans and mice. J Pharmacol Exp Ther. 2018;365:20–26.
   PubMed Web of Science ®Google Scholar
• Bonsi P, Ponterio G, Vanni V, et al. RGS9-2 rescues dopamine D2 receptor levels and signaling in DYT1 dystonia mouse models. EMBO Mol Med. 2019 Jan;11(1):e9283. .
   PubMed Web of Science ®Google Scholar
• Siokas V, Aloizou AM, Tsouris Z, et al. Risk factor genes in patients with dystonia: a comprehensive review. TOHM, 2019 Jan 9;8:559. eCollection 2018
   Google Scholar
• Morgante F, Klein C. Dystonia. Continuum (Minneap Minn). 2013;19:1225–1241.
   PubMedGoogle Scholar
• Ozelius LJ, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet. 1997;17:40–48.
   PubMed Web of Science ®Google Scholar
• Weisheit CE, Pappas SS, Dauer WT. Inherited dystonias: clinical features and molecular pathways. Handb Clin Neurol. 2018;147:241–254.
   PubMedGoogle Scholar
• Zakirova Z, Fanutza T, Bonet J, et al. Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions. PLoS Genet. 2018 Jan 24;14(1):e1007169. eCollection 2018 Jan.
   PubMed Web of Science ®Google Scholar
• Xiao J, Uitti RJ, Zhao Y, et al. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol. 2012;71:458–469.
   PubMed Web of Science ®Google Scholar
• Charlesworth G, Plagnol V, Holmström KM, et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet. 2012;91:1041–1050.
   PubMed Web of Science ®Google Scholar
• Fuchs T, Saunders-Pullman R, Masuho I, et al. Mutations in GNAL cause primary torsion dystonia. Nat Genet. 2013;45:88–92.
   PubMed Web of Science ®Google Scholar
• Lohmann K, Wilcox RA, Winkler S, et al. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol. 2013;73:537–545.
   PubMed Web of Science ®Google Scholar
• Yamamoto N, Soghomonian JJ. Metabotropic glutamate mGluR5 receptor blockade opposes abnormal involuntary movements and the increase in glutamic acid decarboxylase mRNA levels induced by l-DOPA in striatal neurons of 6-hydroxydopamine-lesioned rats. Neuroscience. 2009;163:1171–1180.
   PubMed Web of Science ®Google Scholar
• Bezard E, Pioli EY, Li Q, et al. The mGluR5 negative allosteric modulator dipraglurant reduces dyskinesia in the MPTP macaque model. Mov Disord. 2014;29:1074–1079.
   PubMed Web of Science ®Google Scholar
• Sciamanna G, Ponterio G, Tassone A, et al. Negative allosteric modulation of mGlu5 receptor rescues striatal D2 dopamine receptor dysfunction in rodent models of DYT1 dystonia. Neuropharmacology. 2014;85:440–450.
   PubMed Web of Science ®Google Scholar
• Solmi M, Pigato G, Kane JM, et al. Treatment of tardive dyskinesias with VMAT-2 inhibitors: a systematic review and meta-analysis of randomized controlled trials. Drug Des Devel Ther. 2018;12:1215–1238.
   PubMed Web of Science ®Google Scholar
• Huntington Study Group. Tetrabenazine as antichorea therapy in Huntington disease: a randomized controlled trial. Neurology. 2006;66:366–372.
   PubMed Web of Science ®Google Scholar
• Witek N, Comella C. Valbenazine in the treatment of tardive dyskinesia. Neurodegener Dis Manag. 2019 Feb 6;9:73–81.
   PubMedGoogle Scholar
• Niemann N, Jimenez-Shaded J. Deutetrabenazine in the treatment of tardive dyskinesia. Neurodegener Dis Manag. 2019 Jan 31;9:59–71.
   PubMedGoogle Scholar
• Miguel R, Mendonca MD, Barbosa R, et al. Tetrabenazine in treatment of hyperkinetic movement disorders: an observational study. Ther Adv Neurol Disord. 2017;10:81–90.
   PubMed Web of Science ®Google Scholar
• Luciano AY, Jinnah HA, Pfeiffer RF, et al. Treatment of myoclonus-dystonia syndrome with tetrabenazine. Parkinsonism Relat Disord. 2014;20:1423–1426.
   PubMed Web of Science ®Google Scholar
• Jankovic J, Beach J. Long-term effects of tetrabenazine in hyperkinetic movement disorders. Neurology. 1997;48:358–362.
   PubMed Web of Science ®Google Scholar
• Paleacu D, Giladi N, Moore O, et al. Tetrabenazine treatment in movement disorders. Clin Neuropharmacol. 2004;27:230–233.
   PubMed Web of Science ®Google Scholar
• Ondo WG, Hanna PA, Jankovic J. Tetrabenazine treatment for tardive dyskinesia: assessment by randomized videotape protocol. Am J Psychiatry. 1999;156:1279–1281.
   PubMed Web of Science ®Google Scholar
• Peres FF, Lima AC, Hallak JEC, et al. Cannabidiol as a promising strategy to treat and prevent movement disorders? Front Pharmacol. 2018 May 11;9:482. eCollection 2018.
   PubMed Web of Science ®Google Scholar
• Fox SH, Kellett M, Moore AP, et al. Randomised, double-blind, placebo-controlled trial to assess the potential of cannabinoid receptor stimulation in the treatment of dystonia. Mov Disord. 2002;17:145–149.
   PubMed Web of Science ®Google Scholar
• Zadikoff C, Wadia PM, Miyasaki J, et al. Cannabinoid, CB1 agonists in cervical dystonia: failure in a phase IIa randomized controlled trial. Basal Ganglia. 2011;1:91–95.
   Google Scholar
• Lim K, See YM, Lee J. A systematic review of the effectiveness of medical cannabis for psychiatric, movement and neurodegenerative disorders. Clin Psychopharmacol Neurosci. 2017;15:301–312.
   PubMed Web of Science ®Google Scholar
• Saft C, von Hein SM, Lucke T, et al. Canaabinoids for treatment of dystonia in Huntington’s disease. J Huntingtons Dis. 2018;7:167–173.
   PubMed Web of Science ®Google Scholar
• Rumbach AF, Blitzer A, Frucht SJ, et al. An open-label study of sodium oxybate in spasmodic dysphonia. Laryngoscope. 2017;127:1402–1407.
   PubMed Web of Science ®Google Scholar
• Kirke DN, Frucht SJ, Simonyan K. Alcohol responsiveness in laryngeal dystonia: a survey study. J Neurol. 2015;262:1548–1556.
   PubMed Web of Science ®Google Scholar
• Simonyan K, Frucht SJ, Bllitzer A, et al. A novel therapeutic agent, sodium oxybate, improves dystonic symptoms via reduced network-wide activity. Sci Rep. 2018;8:16111.
   PubMed Web of Science ®Google Scholar
• Fung WKW, Peall KJ. Journal club: what is the role of the cerebellum in the pathophysiology of dystonia? J Neurol. 2019;266:1549–1551.
   PubMed Web of Science ®Google Scholar
• Galpern WR, Coffey CS, Albanese A, et al. Designing clinical trials for dystonia. Neurotherapeutics. 2014;11:117–127.
   PubMed Web of Science ®Google Scholar
• Comella CL, Leurgans S, Wuu J, et al. Rating scales for dystonia: a multicenter assessment. Mov Disord. 2003;18:303–312.
   PubMed Web of Science ®Google Scholar
• Cano SJ, Warner TT, Linacre JM, et al. Capturing the true burden of dystonia on patients: the cervical dystonia impact profile (CDIP-58). Neurology. 2004;63:1629–1633.
   PubMed Web of Science ®Google Scholar
• Dressler D, Tacik P, Saberi FA. Botulinum toxin therapy of cervical dystonia: duration of therapeutic effects. J Neural Transm (Vienna). 2015;122:297–300.
   PubMed Web of Science ®Google Scholar
• Factor SA, Molho ES, Evans S, et al. Efficacy and safety of repeated doses of botulinum toxin type B in type A resistant and responsive cervical dystonia. Mov Disord. 2005;20:1153–1160.
   Web of Science ®Google Scholar
• van Den Dool J, Visser B, Koelman JH, et al. Cervical dystonia: effectiveness of a standardized physical therapy program; study design and protocol of a single blind randomized controlled trial. BMC Neurol. 2013;13:85.
   PubMed Web of Science ®Google Scholar
• Lungu C, Karp BI, Alter K, et al. Long term follow-up of botulinum toxin therapy for focal hand dystonia: outcome at 10 or more years. Mov Disord. 2011;26:750–753.
   PubMed Web of Science ®Google Scholar
• Brashear A, Hogan P, Wooten-Watts M, et al. Longitudinal assessment of the dose consistency of botulinum toxin type A (BOTOX) for cervical dystonia. Adv Ther. 2005;22:49–55.
   PubMed Web of Science ®Google Scholar
• Ramirez-Castaneda J, Jankovic J. Long-term efficacy, safety, and side effect profile of botulinum toxin in dystonia: a 20 year follow-up. Toxicon. 2014;90:344–348.
   PubMed Web of Science ®Google Scholar
• Jankovic J, Adler CH, Charles D, et al. Primary results from the cervical dystonia patient registry for observation of onabotulinumtoxina efficacy (CD PROBE). J Neurol Sci. 2015;349:84–93.
   PubMed Web of Science ®Google Scholar
• Comella CL, Fox SH, Bhatia KP, et al. Development of the comprehensive cervical dystonia rating scale: methodology. Mov Disord Clin Pract. 2015;2:135–141.
   PubMed Web of Science ®Google Scholar
• Comella CL, Perlmutter JS, Jinnah HA, et al. Clinimetric testing of the comprehensive cervical dystonia rating scale. Mov Disord. 2016;31:563–569.
   PubMed Web of Science ®Google Scholar
• Defazio G, Hallett M, Jinnah HA, et al. Development and validation of a clinical guideline for diagnosing blepharospasm. Neurology. 2013;81:236–240.
   PubMed Web of Science ®Google Scholar
• DeFazio G, Hallett M, Jinnah HA, et al. Development and validation of a clinical scale for rating the severity of blepharospasm. Mov Disord. 2015;30:525–530.
   PubMed Web of Science ®Google Scholar
• Ludlow CL, Domanque R, Sharma D, et al. Consensus-based attributes for identifying patients with spasmodic dysphonia and other voice disorders. JAMA Otolaryngol Head Neck Surg. 2018;44:657–665.
   Google Scholar