Convergent mechanisms in etiologically-diverse dystonias

Bibliography

• Perlmutter JS, Mink JW. Dysfunction of dopaminergic pathways in dystonia. Adv Neurol 2004;94:163-70
   PubMedGoogle Scholar
• Bruno MK, Ravina B, Garraux G, Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease. Mov Disord 2004;19:228-30
   PubMedGoogle Scholar
• McKeon A, Matsumoto JY, Bower JH, The spectrum of disorders presenting as adult-onset focal lower extremity dystonia. Parkinsonism Relat Disord 2008;14:613-19
   PubMedGoogle Scholar
• Papapetropoulos S, Lundy DS, Casiano RR, Laryngeal dystonia as a presenting symptom of young-onset Parkinson's disease. Mov Disord 2007;22:1670-1
   PubMedGoogle Scholar
• Katchen M, Duvoisin RC. Parkinsonism following dystonia in three patients. Mov Disord 1986;1:151-7
   PubMedGoogle Scholar
• Lees AJ, Hardie RJ, Stern GM. Kinesigenic foot dystonia as a presenting feature of Parkinson's disease. J Neurol Neurosurg Psychiatry 1984;47:885
   PubMed Web of Science ®Google Scholar
• Klawans HL, Paleologos N. Dystonia-Parkinson syndrome: differential effects of levodopa and dopamine agonists. Clin Neuropharmacol 1986;9:298-302
   PubMed Web of Science ®Google Scholar
• Lopez-Ariztegui N, Arevalo MA, de Ceballos ML, Central levodopa influx and the clinical motor response to levodopa in patients with Parkinson disease complicated with motor fluctuations and dyskinesias. Clin Neuropharmacol 2009;32:321-5
   PubMedGoogle Scholar
• Bravi D, Mouradian MM, Roberts JW, End-of-dose dystonia in Parkinson's disease. Neurology 1993;43:2130-1
   PubMedGoogle Scholar
• Cubo E, Gracies JM, Benabou R, Early morning off-medication dyskinesias, dystonia, and choreic subtypes. Arch Neurol 2001;58:1379-82
   PubMed Web of Science ®Google Scholar
• Burke RE, Fahn S, Jankovic J, Tardive dystonia: late-onset and persistent dystonia caused by antipsychotic drugs. Neurology 1982;32:1335-46
   PubMed Web of Science ®Google Scholar
• Tonini M, Cipollina L, Poluzzi E, Review article: clinical implications of enteric and central D2 receptor blockade by antidopaminergic gastrointestinal prokinetics. Aliment Pharmacol Ther 2004;19:379-90
   PubMed Web of Science ®Google Scholar
• Kiriakakis V, Bhatia KP, Quinn NP, The natural history of tardive dystonia. A long-term follow-up study of 107 cases. Brain 1998;121:2053-66
   PubMed Web of Science ®Google Scholar
• Abeling NG, Duran M, Bakker HD, Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Mol Genet Metab 2006;89:116-20
   PubMed Web of Science ®Google Scholar
• Furukawa Y, Shimadzu M, Rajput AH, GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa-responsive dystonia. Ann Neurol 1996;39:609-17
   PubMed Web of Science ®Google Scholar
• Hanihara T, Inoue K, Kawanishi C, 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. Mov Disord 1997;12:408-11
   PubMedGoogle Scholar
• Knappskog PM, Flatmark T, Mallet J, Recessively inherited l-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995;4:1209-12
   PubMed Web of Science ®Google Scholar
• Ludecke B, Knappskog PM, Clayton PT, Recessively inherited l-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet 1996;57:1023-8
   Google Scholar
• Neville BG, Parascandalo R, Farrugia R, Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. Brain 2005;128:2291-6
   PubMedGoogle Scholar
• Thony B, Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat 2006;279:870-8
   Google Scholar
• Muller K, Homberg V, Lenard HG. Motor control in childhood onset dopa-responsive dystonia (Segawa syndrome). Neuropediatrics 1989;20:185-91
   PubMedGoogle Scholar
• Boyd K, Patterson V. Dopa responsive dystonia: a treatable condition misdiagnosed as cerebral palsy. BMJ 1989;298:1019-20
   PubMedGoogle Scholar
• Ichinose H, Ohye T, Takahashi E, Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994;8:236-42
   PubMed Web of Science ®Google Scholar
• van den Heuvel LP, Luiten B, Smeitink JA, A common point mutation in the tyrosine hydroxylase gene in autosomal recessive l-DOPA-responsive dystonia in the Dutch population. Hum Genet 1998;102:644-6
   PubMed Web of Science ®Google Scholar
• Ernst M, Zametkin AJ, Matochik JA, Presynaptic dopaminergic deficits in Lesch-Nyhan disease. N Engl J Med 1996;334:1568-72
   PubMed Web of Science ®Google Scholar
• Nyhan WL. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect 2000;108:409-11
   PubMedGoogle Scholar
• Lloyd KG, Hornykiewicz O, Davidson L, Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. N Engl J Med 1981;305:1106-11
   PubMed Web of Science ®Google Scholar
• Saito Y, Ito M, Hanaoka S, Dopamine receptor upregulation in Lesch-Nyhan syndrome: a postmortem study. Neuropediatrics 1999;30:66-71
   PubMedGoogle Scholar
• Jinnah HA, Wojcik BE, Hunt M, Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. J Neurosci 1994;14:1164-75
   PubMed Web of Science ®Google Scholar
• Ceballos-Picot I, Mockel L, Potier MC, Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis. Hum Mol Gen 2009;18:2317-27
   PubMed Web of Science ®Google Scholar
• Barnett MH, Jarman PR, Heales SJ, Further case of paroxysmal exercise-induced dystonia and some insights into pathogenesis. Mov Disord 2002;17:1386-7
   PubMedGoogle Scholar
• Hamann M, Richter A. Striatal increase of extracellular dopamine levels during dystonic episodes in a genetic model of paroxysmal dyskinesia. Neurobiol Dis 2004;16:78-84
   PubMedGoogle Scholar
• Napolitano F, Pasqualetti M, Usiello A, Dopamine D2 receptor dysfunction is rescued by adenosine A2A receptor antagonism in a model of DYT1 dystonia. Neurobiol Dis 2010;38:434-45
   PubMed Web of Science ®Google Scholar
• Sciamanna G, Bonsi P, Tassone A, Impaired striatal D2 receptor function leads to enhanced GABA transmission in a mouse model of DYT1 dystonia. Neurobiol Dis 2009;34:133-45
   PubMedGoogle Scholar
• Neychev VK, Fan X, Mitev VI, The basal ganglia and cerebellum interact in the expression of dystonic movement. Brain 2008;131:2499-509
   PubMedGoogle Scholar
• Horie C, Suzuki Y, Kiyosawa M, Decreased dopamine D-2 receptor binding in essential blepharospasm. Acta Neurol Scand 2009;119:49-54
   PubMed Web of Science ®Google Scholar
• Hierholzer J, Cordes M, Schelosky L, Dopamine D2 receptor imaging with iodine-123-iodobenzamide SPECT in idiopathic rotational torticollis. J Nucl Med 1994;35:1921-7
   PubMedGoogle Scholar
• Naumann M, Pirker W, Reiners K, 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
   PubMed Web of Science ®Google Scholar
• Boesch SM, Donnemiller E, Muller J, Abnormalities of dopaminergic neurotransmission in SCA2: a combined 123I-betaCIT and 123I-IBZM SPECT study. Mov Disord 2004;19:1320-5
   PubMedGoogle Scholar
• Berger HJ, van der Werf SP, Horstink CA, Writer's cramp: restoration of striatal D2-binding after successful biofeedback-based sensorimotor training. Parkinsonism Relat Disord 2007;13:170-3
   PubMedGoogle Scholar
• Lang AE. Dopamine agonists and antagonists in the treatment of idiopathic dystonia. Adv Neurol 1988;50:561-70
   PubMedGoogle Scholar
• Mandell S. The treatment of dystonia with L-dopa and haloperidol. Neurology 1970;20:103-6
   PubMedGoogle Scholar
• Thiel A, Dressler D, Kistel C, Clozapine treatment of spasmodic torticollis. Neurology 1994;44:957-8
   PubMed Web of Science ®Google Scholar
• Barrett RE, Yahr MD, Duvoisin RC. Torsion dystonia and spasmodic torticollis – results of treatment with l-dopa. Neurology 1970;20:107-13
   PubMed Web of Science ®Google Scholar
• Grassi E, Latorraca S, Piacentini S, Risperidone in idiopathic and symptomatic dystonia: preliminary experience. Neurol Sci 2000;21:121-3
   PubMedGoogle Scholar
• Gourzis P, Polychronopoulos P, Papapetropoulos S, Quetiapine in the treatment of focal tardive dystonia induced by other atypical antipsychotics: a report of 2 cases. Clin Neuropharmacol 2005;28:195-6
   PubMed Web of Science ®Google Scholar
• Greene P, Shale H, Fahn S. Analysis of open-label trials in torsion dystonia using high dosages of anticholinergics and other drugs. Mov Disord 1988;3:46-60
   PubMed Web of Science ®Google Scholar
• Ming L. Moldy sugarcane poisoning – a case report with a brief review. J Toxicol Clin Toxicol 1995;33:363-7
   PubMed Web of Science ®Google Scholar
• He F, Zhang S, Qian F, Delayed dystonia with striatal CT lucencies induced by a mycotoxin (3-nitropropionic acid). Neurology 1995;45:2178-83
   PubMedGoogle Scholar
• Peraica M, Radic B, Lucic A, Toxic effects of mycotoxins in humans. Bull World Health Organ 1999;77:754-66
   PubMed Web of Science ®Google Scholar
• Beal MF, Brouillet E, Jenkins BG, Neurochemical and histologic characterization of striatal excitotoxic lesions produced by the mitochondrial toxin 3-nitropropionic acid. J Neurosci 1993;13:4181-92
   PubMed Web of Science ®Google Scholar
• Herrera-Mundo N, Sitges M. Mechanisms underlying striatal vulnerability to 3-nitropropionic acid. J Neurochem 2010;114:597-605
   PubMed Web of Science ®Google Scholar
• Fernagut PO, Diguet E, Stefanova N, Subacute systemic 3-nitropropionic acid intoxication induces a distinct motor disorder in adult C57Bl/6 mice: behavioural and histopathological characterisation. Neuroscience 2002;114:1005-17
   PubMedGoogle Scholar
• Palfi S, Leventhal L, Goetz CG, Delayed onset of progressive dystonia following subacute 3-nitropropionic acid treatment in Cebus apella monkeys. Mov Disord 2000;15:524-30
   Google Scholar
• Brouillet E, Hantraye P, Ferrante RJ, Chronic mitochondrial energy impairment produces selective striatal degeneration and abnormal choreiform movements in primates. Proc Natl Acad Sci USA 1995;92:7105-9
   PubMed Web of Science ®Google Scholar
• De Vries DD, Went LN, Bruyn GW, Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 1996;58:703-11
   PubMed Web of Science ®Google Scholar
• Sarzi E, Brown MD, Lebon S, A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. Am J Med Genet A 2007;143:33-41
   Web of Science ®Google Scholar
• Huoponen K, Vilkki J, Aula P, A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 1991;48:1147-53
   PubMed Web of Science ®Google Scholar
• Makino M, Horai S, Goto Y, Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome. Neuromuscul Disord 1998;8:149-51
   PubMedGoogle Scholar
• Santorelli FM, Shanske S, Macaya A, The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 1993;34:827-34
   PubMedGoogle Scholar
• Roesch K, Curran SP, Tranebjaerg L, Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet 2002;11:477-86
   PubMedGoogle Scholar
• Tranebjaerg L, Jensen PK, Van Ghelue M, Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene. Ophthalmic Genet 2001;22:207-23
   PubMedGoogle Scholar
• Binder J, Hofmann S, Kreisel S, Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene. Brain 2003;126:1814-20
   PubMedGoogle Scholar
• Ezquerra M, Campdelacreu J, Munoz E, A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome. Arch Neurol 2005;62:306-8
   PubMedGoogle Scholar
• Arts WFM, Scholte HR, Bogaard JM, NADH-CoQ reductase deficient myopathy – Successful treatment with riboflavin. Lancet 1983;2:581-2
   PubMedGoogle Scholar
• Bernsen P, Gabreels FJM, Ruitenbeek W, Treatment of complex-I deficiency with riboflavin. J Neurol Sci 1993;118:181-7
   PubMed Web of Science ®Google Scholar
• Penn AMW, Lee JWK, Thuillier P, Melas Syndrome with mitochondrial transfer RNALue(UUR) mutation – correlation of clinical state, nerve-conduction, and muscle P-31 magnetic-resonance spectroscopy during treatment with nicotinamide and riboflavin. Neurology 1992;42:2147-52
   PubMed Web of Science ®Google Scholar
• Benecke R, Strumper P, Weiss H. Electron transfer complex I defect in idiopathic dystonia. Ann Neurol 1992;32:683-6
   PubMedGoogle Scholar
• Nigro MA, Martens ME, Awerbuch GI, Partial cytochrome b deficiency and generalized dystonia. Pediatr Neurol 1990;6:407-10
   PubMedGoogle Scholar
• Schapira AH, Warner T, Gash MT, Complex I function in familial and sporadic dystonia. Ann Neurol 1997;41:556-9
   PubMed Web of Science ®Google Scholar
• Simon DK, Friedman J, Breakefield XO, A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia. Neurogenetics 2003;4:199-205
   PubMedGoogle Scholar
• Pettus EH, Betarbet R, Cottrell B, Immunocytochemical characterization of the mitochondrially encoded ND1 subunit of complex I (NADH: ubiquinone oxidoreductase) in rat brain. J Neurochem 2000;75:383-92
   PubMedGoogle Scholar
• Solano A, Roig M, Vives-Bauza C, Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene. Ann Neurol 2003;54:527-30
   PubMedGoogle Scholar
• Bruyn GW, Vielvoye GJ, Went LN. Hereditary spastic dystonia: a new mitochondrial encephalopathy? Putaminal necrosis as a diagnostic sign. J Neurol Sci 1991;103:195-202
   PubMedGoogle Scholar
• Palacino JJ, Sagi D, Goldberg MS, Mitochondrial dysfunction and oxidative damage in parkin-deficient mice. J Biol Chem 2004;279:18614-22
   PubMed Web of Science ®Google Scholar
• Cuenca-Leon E, Banchs I, Serra SA, Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene. J Neurol Sci 2009;280:10-14
   PubMed Web of Science ®Google Scholar
• Giffin NJ, Benton S, Goadsby PJ. Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. Dev Med Child Neurol 2002;44:490-3
   PubMed Web of Science ®Google Scholar
• Roubertie A, Echenne B, Leydet J, Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family. J Neurol 2008;255:1600-2
   PubMed Web of Science ®Google Scholar
• Spacey SD, Materek LA, Szczygielski BI, Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. Arch Neurol 2005;62:314-16
   PubMedGoogle Scholar
• Vesper J, Klostermann F, Funk T, Deep brain stimulation of the globus pallidus internus (GPI) for torsion dystonia – a report of two cases. Acta Neurochir Suppl 2002;79:83-8
   PubMedGoogle Scholar
• Bereznai B, Steude U, Seelos K, Chronic high-frequency globus pallidus internus stimulation in different types of dystonia: a clinical, video, and MRI report of six patients presenting with segmental, cervical, and generalized dystonia. Mov Disord 2002;17:138-44
   PubMed Web of Science ®Google Scholar
• McIntyre CC, Grill WM, Sherman DL, Cellular effects of deep brain stimulation: model-based analysis of activation and inhibition. J Neurophysiol 2004;91:1457-69
   PubMed Web of Science ®Google Scholar
• Jun K, Piedras-Renteria ES, Smith SM, Ablation of P/Q-type Ca2+ channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha1A-subunit. Proc Natl Acad Sci USA 1999;96:15245-50
   PubMed Web of Science ®Google Scholar
• Fletcher CF, Tottene A, Lennon VA, Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity. FASEB J 2001;15:1288-90
   PubMed Web of Science ®Google Scholar
• Raike RS, Jinnah HA, Hess EJ. Animal models of generalized dystonia. NeuroRx 2005;2:504-12
   PubMedGoogle Scholar
• Xie G, Clapcote SJ, Nieman BJ, Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A. Genes Brain Behav 2007;6:717-27
   PubMedGoogle Scholar
• Doyle J, Ren X, Lennon G, Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice. Mamm Genome 1997;8:113-20
   PubMedGoogle Scholar
• Lorenzon NM, Lutz CM, Frankel WN, Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner. J Neurosci 1998;18:4482-9
   PubMedGoogle Scholar
• Shirley TL, Rao LM, Hess EJ, Paroxysmal dyskinesias in mice. Mov Disord 2008;23:259-64
   PubMed Web of Science ®Google Scholar
• Zwingman TA, Neumann PE, Noebels JL, Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a. J Neurosci 2001;21:1169-78
   PubMed Web of Science ®Google Scholar
• Wakamori M, Yamazaki K, Matsunodaira H. Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel. J Biol Chem 1998;273:34857-67
   PubMed Web of Science ®Google Scholar
• Pietrobon D. CaV2.1 channelopathies. Pflugers Arch 2010;460:375-93
   PubMed Web of Science ®Google Scholar
• Jinnah HA, Sepkuty JP, Ho T, Calcium channel agonists and dystonia in the mouse. Mov Disord 2000;15:542-51
   PubMedGoogle Scholar
• Fureman BE, Jinnah HA, Hess EJ. Triggers of paroxysmal dyskinesia in the calcium channel mouse mutant tottering. Pharmacol Biochem Behav 2002;73:631-7
   PubMedGoogle Scholar
• Richter A, Loscher W. Antidystonic effects of L-type Ca2+ channel antagonists in a hamster model of idiopathic dystonia. Eur J Pharmacol 1996;300:197-202
   PubMedGoogle Scholar
• Wszolek ZK, Baba Y, Mackenzie IR, Autosomal dominant dystonia-plus with cerebral calcifications. Neurology 2006;67:620-5
   PubMedGoogle Scholar
• Du W, Bautista JF, Yang H, Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet 2005;37:733-8
   PubMed Web of Science ®Google Scholar
• Neychev VK, Gross RE, Lehericy S, The functional neuroanatomy of dystonia. Neurobiol Dis 2011;42:185-201
   PubMed Web of Science ®Google Scholar
• Bhatia KP, Marsden CD. The behavioural and motor consequences of focal lesions of the basal ganglia in man. Brain 1994;117:859-76
   PubMed Web of Science ®Google Scholar
• Kurita H, Sasaki T, Suzuki I, Basal ganglia arteriovenous malformation presenting as "writer's cramp". Childs Nerv Syst 1998;14:285-7
   PubMedGoogle Scholar
• Mahant N, Cordato DJ, Fung VS. Focal myoclonus-dystonia of the leg secondary to a lesion of the posterolateral putamen: clinical and neurophysiological features. Mov Disord 2003;18:452-5
   PubMedGoogle Scholar
• Munchau A, Mathen D, Cox T, Unilateral lesions of the globus pallidus: report of four patients presenting with focal or segmental dystonia. J Neurol Neurosurg Psychiatry 2000;69:494-8
   PubMed Web of Science ®Google Scholar
• Walker RH, Purohit DP, Good PF, Severe generalized dystonia due to primary putaminal degeneration: case report and review of the literature. Mov Disord 2002;17:576-84
   PubMedGoogle Scholar
• Galardi G, Perani D, Grassi F, Basal ganglia and thalamo-cortical hypermetabolism in patients with spasmodic torticollis. Acta Neurol Scand 1996;94:172-6
   PubMedGoogle Scholar
• Carbon M, Su S, Dhawan V, Regional metabolism in primary torsion dystonia: effects of penetrance and genotype. Neurology 2004;62:1384-90
   PubMedGoogle Scholar
• Eidelberg D, Moeller JR, Antonini A, Functional brain networks in DYT1 dystonia. Ann Neurol 1998;44:303-12
   PubMed Web of Science ®Google Scholar
• Kerrison JB, Lancaster JL, Zamarripa FE, Positron emission tomography scanning in essential blepharospasm. Am J Ophthalmol 2003;136:846-52
   PubMedGoogle Scholar
• Peller M, Zeuner KE, Munchau A, The basal ganglia are hyperactive during the discrimination of tactile stimuli in writer's cramp. Brain 2006;129:2697-708
   PubMed Web of Science ®Google Scholar
• Hu XY, Wang L, Liu H, Functional magnetic resonance imaging study of writer's cramp. Chin Med J (Engl) 2006;119:1263-71
   PubMedGoogle Scholar
• Blood AJ, Flaherty AW, Choi JK, Basal ganglia activity remains elevated after movement in focal hand dystonia. Ann Neurol 2004;55:744-8
   PubMedGoogle Scholar
• Tolosa E, Compta Y. Dystonia in Parkinson's disease. J Neurol 2006;253(Suppl 7):VII7-13
   PubMedGoogle Scholar
• Louis ED, Anderson KE, Moskowitz C, Dystonia-predominant adult-onset Huntington disease: association between motor phenotype and age of onset in adults. Arch Neurol 2000;57:1326-30
   PubMedGoogle Scholar
• Louis ED, Lee P, Quinn L, Dystonia in Huntington's disease: prevalence and clinical characteristics. Mov Disord 1999;14:95-101
   PubMed Web of Science ®Google Scholar
• Oliver J, Dewhurst K. Childhood and adolescent forms of Huntington's disease. J Neurol Neurosurg Psychiatry 1969;32:455-9
   PubMedGoogle Scholar
• Byers RK, Gilles FH, Fung C. Huntington's disease in children. Neuropathologic study of four cases. Neurology 1973;23:561-9
   PubMedGoogle Scholar
• Lozano AM, Kumar R, Gross RE, Globus pallidus internus pallidotomy for generalized dystonia. Mov Disord 1997;12:865-70
   PubMed Web of Science ®Google Scholar
• Ford B. Pallidotomy for generalized dystonia. Adv Neurol 2004;94:287-99
   PubMedGoogle Scholar
• Gross RE. What happened to posteroventral pallidotomy for Parkinson's disease and dystonia? Neurotherapeutics 2008;5:281-93
   PubMed Web of Science ®Google Scholar
• Ostrem JL, Racine CA, Glass GA, Subthalamic nucleus deep brain stimulation in primary cervical dystonia. Neurology 2011;76:870-8
   PubMed Web of Science ®Google Scholar
• Isaias IU, Alterman RL, Tagliati M. Deep brain stimulation for primary generalized dystonia: long-term outcomes. Arch Neurol 2009;66:465-70
   PubMed Web of Science ®Google Scholar
• Bittar RG, Yianni J, Wang S, Deep brain stimulation for generalised dystonia and spasmodic torticollis. J Clin Neurosci 2005;12:12-16
   PubMedGoogle Scholar
• Krauss JK, Loher TJ, Weigel R, Chronic stimulation of the globus pallidus internus for treatment of non-dYT1 generalized dystonia and choreoathetosis: 2-year follow up. J Neurosurg 2003;98:785-92
   PubMed Web of Science ®Google Scholar
• Capelle HH, Blahak C, Schrader C, Chronic deep brain stimulation in patients with tardive dystonia without a history of major psychosis. Mov Disord 2010;25:1477-81
   PubMed Web of Science ®Google Scholar
• Chang EF, Schrock LE, Starr PA, Long-term benefit sustained after bilateral pallidal deep brain stimulation in patients with refractory tardive dystonia. Stereotact Funct Neurosurg 2010;88:304-10
   PubMedGoogle Scholar
• Gruber D, Trottenberg T, Kivi A, Long-term effects of pallidal deep brain stimulation in tardive dystonia. Neurology 2009;73:53-8
   PubMed Web of Science ®Google Scholar
• Usmani N, Bedi GS, Sengun C, Late onset of cervical dystonia in a 39-year-old patient following cerebellar hemorrhage. J Neurol 2011;258:149-51
   PubMed Web of Science ®Google Scholar
• Waln O, LeDoux MS. Delayed-onset oromandibular dystonia after a cerebellar hemorrhagic stroke. Parkinsonism Relat Disord 2010;16:623-5
   PubMedGoogle Scholar
• Zadro I, Brinar VV, Barun B, Cervical dystonia due to cerebellar stroke. Mov Disord 2008;23:919-20
   PubMedGoogle Scholar
• O'Rourke K, O'Riordan S, Gallagher J, Paroxysmal torticollis and blepharospasm following bilateral cerebellar infarction. J Neurol 2006;253:1644-5
   PubMedGoogle Scholar
• Rumbach L, Barth P, Costaz A, Hemidystonia consequent upon ipsilateral vertebral artery occlusion and cerebellar infarction. Mov Disord 1995;10:522-5
   PubMedGoogle Scholar
• Krauss JK, Seeger W, Jankovic J. Cervical dystonia associated with tumors of the posterior fossa. Mov Disord 1997;12:443-7
   PubMedGoogle Scholar
• LeDoux MS, Brady KA. Secondary cervical dystonia associated with structural lesions of the central nervous system. Mov Disord 2003;18:60-9
   PubMedGoogle Scholar
• Caress JB, Nohria V, Fuchs H, Torticollis acquired in late infancy due to a cerebellar gangliocytoma. Int J Pediatr Otorhinolaryngol 1996;36:39-44
   PubMedGoogle Scholar
• Alarcon F, Tolosa E, Munoz E. Focal limb dystonia in a patient with a cerebellar mass. Arch Neurol 2001;58:1125-7
   PubMedGoogle Scholar
• Draganski B, Thun-Hohenstein C, Bogdahn U, "Motor circuit" gray matter changes in idiopathic cervical dystonia. Neurology 2003;61:1228-31
   PubMedGoogle Scholar
• Obermann M, Yaldizli O, De Greiff A, Morphometric changes of sensorimotor structures in focal dystonia. Mov Disord 2007;22:1117-23
   PubMedGoogle Scholar
• Delmaire C, Vidailhet M, Elbaz A, Structural abnormalities in the cerebellum and sensorimotor circuit in writer's cramp. Neurology 2007;69:376-80
   PubMed Web of Science ®Google Scholar
• Kluge A, Kettner B, Zschenderlein R, Changes in perfusion pattern using ECD-SPECT indicate frontal lobe and cerebellar involvement in exercise-induced paroxysmal dystonia. Mov Disord 1998;13:125-34
   PubMedGoogle Scholar
• Yoon JH, Lee PH, Yoon SN. Subtraction brain SPECT imaging in a patient with paroxysmal exercise-induced dystonia: role of the primary somatosensory cortex. Arch Neurol 2007;64:1652-6
   PubMedGoogle Scholar
• LeDoux MS, Rutledge SL, Mountz JM, SPECT abnormalities in generalized dystonia. Pediatr Neurol 1995;13:5-10
   PubMedGoogle Scholar
• Preibisch C, Berg D, Hofmann E, Cerebral activation patterns in patients with writer's cramp: a functional magnetic resonance imaging study. J Neurol 2001;248:10-17
   PubMed Web of Science ®Google Scholar
• Hutchinson M, Nakamura T, Moeller JR, The metabolic topography of essential blepharospasm: a focal dystonia with general implications. Neurology 2000;55:673-7
   PubMedGoogle Scholar
• Argyelan M, Carbon M, Niethammer M, Cerebellothalamocortical connectivity regulates penetrance in dystonia. J Neurosci 2009;29:9740-7
   PubMedGoogle Scholar
• Campbell DB, Hess EJ. Cerebellar circuitry is activated during convulsive episodes in the tottering (tg/tg) mutant mouse. Neuroscience 1998;85:773-83
   PubMedGoogle Scholar
• Chen G, Popa LS, Wang X, Low-frequency oscillations in the cerebellar cortex of the tottering mouse. J Neurophysiol 2009;101:234-45
   PubMed Web of Science ®Google Scholar
• Brown LL, Lorden JF. Regional cerebral glucose utilization reveals widespread abnormalities in the motor system of the rat mutant dystonic. J Neurosci 1989;9:4033-41
   PubMedGoogle Scholar
• Richter A, Brotchie JM, Crossman AR, [3H]-2-deoxyglucose uptake study in mutant dystonic hamsters: abnormalities in discrete brain regions of the motor system. Mov Disord 1998;13:718-25
   PubMedGoogle Scholar
• Pizoli CE, Jinnah HA, Billingsley ML, Abnormal cerebellar signaling induces dystonia in mice. J Neurosci 2002;22:7825-33
   PubMedGoogle Scholar
• LeDoux MS, Lorden JF, Meinzen-Derr J. Selective elimination of cerebellar output in the genetically dystonic rat. Brain Res 1995;697:91-103
   PubMedGoogle Scholar
• Devanagondi R, Egami K, LeDoux MS, Neuroanatomical substrates for paroxysmal dyskinesia in lethargic mice. Neurobiol Dis 2007;27:249-57
   PubMedGoogle Scholar
• Campbell DB, North JB, Hess EJ. Tottering mouse motor dysfunction is abolished on the Purkinje cell degeneration (pcd) mutant background. Exp Neurol 1999;160:268-78
   PubMed Web of Science ®Google Scholar
• Calderon DP, Fremont R, Kraenzlin F, The neural substrates of rapid-onset Dystonia-Parkinsonism. Nat Neurosci 2011;14:357-65
   PubMed Web of Science ®Google Scholar
• Baumer T, Demiralay C, Hidding U, Abnormal plasticity of the sensorimotor cortex to slow repetitive transcranial magnetic stimulation in patients with writer's cramp. Mov Disord 2007;22:81-90
   PubMedGoogle Scholar
• Braun C, Schweizer R, Heinz U, Task-specific plasticity of somatosensory cortex in patients with writer's cramp. Neuroimage 2003;20:1329-38
   PubMedGoogle Scholar
• Edwards MJ, Huang YZ, Mir P, Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers. Mov Disord 2006;21:2181-6
   PubMed Web of Science ®Google Scholar
• Quartarone A, Morgante F, Sant'angelo A, Abnormal plasticity of sensorimotor circuits extends beyond the affected body part in focal dystonia. J Neurol Neurosurg Psychiatry 2008;79:985-90
   PubMedGoogle Scholar
• Tamura Y, Ueki Y, Lin P, Disordered plasticity in the primary somatosensory cortex in focal hand dystonia. Brain 2009;132:749-55
   PubMedGoogle Scholar
• Mehrkens JH, Botzel K, Steude U, Long-term efficacy and safety of chronic globus pallidus internus stimulation in different types of primary dystonia. Stereotact Funct Neurosurg 2009;87:8-17
   PubMed Web of Science ®Google Scholar
• Kohling R, Koch UR, Hamann M, Increased excitability in cortico-striatal synaptic pathway in a model of paroxysmal dystonia. Neurobiol Dis 2004;16:236-45
   PubMedGoogle Scholar
• Martella G, Tassone A, Sciamanna G, Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine. Brain 2009;132:2336-49
   PubMed Web of Science ®Google Scholar
• Pisani A, Martella G, Tscherter A, Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia. Neurobiol Dis 2006;24:318-25
   PubMed Web of Science ®Google Scholar
• Kreitzer AC, Malenka RC. Endocannabinoid-mediated rescue of striatal LTD and motor deficits in Parkinson's disease models. Nature 2007;445:643-7
   PubMed Web of Science ®Google Scholar
• Ferre S. Adenosine-dopamine interactions in the ventral striatum. Implications for the treatment of schizophrenia. Psychopharmacology (Berl) 1997;133:107-20
   PubMed Web of Science ®Google Scholar
• Elbert T, Candia V, Altenmuller E, Alteration of digital representations in somatosensory cortex in focal hand dystonia. Neuroreport 1998;9:3571-5
   PubMed Web of Science ®Google Scholar
• Granert O, Peller M, Gaser C, Manual activity shapes structure and function in contralateral human motor hand area. Neuroimage 2011;54:32-41
   PubMed Web of Science ®Google Scholar
• Kang JS, Terranova C, Hilker R, Deficient homeostatic regulation of practice-dependent plasticity in writer's cramp. Cereb Cortex 2011;21:1203-12
   PubMedGoogle Scholar
• Byl NN, Merzenich MM, Jenkins WM. A primate genesis model of focal dystonia and repetitive strain injury: I. Learning-induced dedifferentiation of the representation of the hand in the primary somatosensory cortex in adult monkeys. Neurology 1996;47:508-20
   PubMed Web of Science ®Google Scholar
• Alterman RL, Miravite J, Weisz D, Sixty hertz pallidal deep brain stimulation for primary torsion dystonia. Neurology 2007;69:681-8
   PubMedGoogle Scholar
• Sun B, Chen S, Zhan S, Subthalamic nucleus stimulation for primary dystonia and tardive dystonia. Acta Neurochir Suppl 2007;97:207-14
   PubMedGoogle Scholar
• Bressman SB. Dystonia genotypes, phenotypes, and classification. Adv Neurol 2004;94:101-7
   PubMedGoogle Scholar
• Kojovic M, Caronni A, Bologna M, Botulinum toxin injections reduce associative plasticity in patients with primary dystonia. Mov Disord 2011;26:1282-9
   PubMedGoogle Scholar
• Blomstedt P, Tisch S, Hariz MI. Pallidal deep brain stimulation in the treatment of Meige syndrome. Acta Neurol Scand 2008;118:198-202
   PubMedGoogle Scholar
• Fukaya C, Katayama Y, Kano T, Thalamic deep brain stimulation for writer's cramp. J Neurosurg 2007;107:977-82
   PubMed Web of Science ®Google Scholar
• Reese R, Charron G, Nadjar A, High frequency stimulation of the entopeduncular nucleus sets the cortico-basal ganglia network to a new functional state in the dystonic hamster. Neurobiol Dis 2009;35:399-405
   PubMedGoogle Scholar
• Tisch S, Rothwell JC, Bhatia KP, Pallidal stimulation modifies after-effects of paired associative stimulation on motor cortex excitability in primary generalised dystonia. Exp Neurol 2007;206:80-5
   PubMedGoogle Scholar
• Kuncel AM, Turner DA, Ozelius LJ, Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome. Clin Neurol Neurosurg 2009;111:303-6
   PubMed Web of Science ®Google Scholar
• Panizza M, Lelli S, Nilsson J, H-reflex recovery curve and reciprocal inhibition of H-reflex in different kinds of dystonia. Neurology 1990;40:824-8
   PubMed Web of Science ®Google Scholar
• Nakashima K, Rothwell JC, Day BL, Reciprocal inhibition between forearm muscles in patients with writer's cramp and other occupational cramps, symptomatic hemidystonia and hemiparesis due to stroke. Brain 1989;112:681-97
   PubMed Web of Science ®Google Scholar
• Tisch S, Limousin P, Rothwell JC, Changes in forearm reciprocal inhibition following pallidal stimulation for dystonia. Neurology 2006;66:1091-3
   PubMedGoogle Scholar
• Priori A, Berardelli A, Mercuri B, Physiological effects produced by botulinum toxin treatment of upper limb dystonia. Changes in reciprocal inhibition between forearm muscles. Brain 1995;118:801-7
   PubMed Web of Science ®Google Scholar
• Ridding MC, Sheean G, Rothwell JC, Changes in the balance between motor cortical excitation and inhibition in focal, task specific dystonia. J Neurol Neurosurg Psychiatry 1995;59:493-8
   PubMed Web of Science ®Google Scholar
• Beck S, Shamim EA, Richardson SP, Inter-hemispheric inhibition is impaired in mirror dystonia. Eur J Neurosci 2009;29:1634-40
   PubMedGoogle Scholar
• Sohn YH, Hallett M. Disturbed surround inhibition in focal hand dystonia. Ann Neurol 2004;56:595-9
   PubMed Web of Science ®Google Scholar
• Beck S, Houdayer E, Richardson SP, The role of inhibition from the left dorsal premotor cortex in right-sided focal hand dystonia. Brain Stimul 2009;2:208-14
   PubMedGoogle Scholar
• Matsumura M, Sawaguchi T, Oishi T, Behavioral deficits induced by local injection of bicuculline and muscimol into the primate motor and premotor cortex. J Neurophysiol 1991;65:1542-53
   PubMed Web of Science ®Google Scholar
• Matsumura M, Sawaguchi T, Kubota K. GABAergic inhibition of neuronal activity in the primate motor and premotor cortex during voluntary movement. J Neurophysiol 1992;68:692-702
   PubMedGoogle Scholar
• Deuschl G, Heinen F, Kleedorfer B, Clinical and polymyographic investigation of spasmodic torticollis. J Neurol 1992;239:9-15
   PubMedGoogle Scholar
• Muller J, Wissel J, Masuhr F, Clinical characteristics of the geste antagoniste in cervical dystonia. J Neurol 2001;248:478-82
   PubMed Web of Science ®Google Scholar
• Wissel J, Muller J, Ebersbach G, Trick maneuvers in cervical dystonia: investigation of movement- and touch-related changes in polymyographic activity. Mov Disord 1999;14:994-9
   PubMedGoogle Scholar
• Naumann M, Magyar-Lehmann S, Reiners K, Sensory tricks in cervical dystonia: perceptual dysbalance of parietal cortex modulates frontal motor programming. Ann Neurol 2000;47:322-8
   PubMed Web of Science ®Google Scholar
• Schramm A, Classen J, Reiners K, Characteristics of sensory trick-like manoeuvres in jaw-opening dystonia. Mov Disord 2007;22:430-3
   PubMedGoogle Scholar
• Sheehy M, Marsden C. Writers' cramp – a focal dystonia. Brain 1982;105:465-80
   Google Scholar
• Gomez-Wong E, Marti MJ, Tolosa E, Sensory modulation of the blink reflex in patients with blepharospasm. Arch Neurol 1998;55:1233-7
   PubMedGoogle Scholar
• Yoneda Y, Rome S, Sagar HJ, Abnormal perception of the tonic vibration reflex in idiopathic focal dystonia. Eur J Neurol 2000;7:529-33
   PubMedGoogle Scholar
• Frima N, Nasir J, Grunewald RA. Abnormal vibration-induced illusion of movement in idiopathic focal dystonia: an endophenotypic marker? Mov Disord 2008;23:373-7
   PubMed Web of Science ®Google Scholar
• Kaji R, Rothwell JC, Katayama M, Tonic vibration reflex and muscle afferent block in writer's cramp. Ann Neurol 1995;38:155-62
   PubMed Web of Science ®Google Scholar
• Rosenkranz K, Williamon A, Butler K, Pathophysiological differences between musician's dystonia and writer's cramp. Brain 2005;128:918-31
   PubMed Web of Science ®Google Scholar
• Tamburin S, Manganotti P, Marzi CA, Abnormal somatotopic arrangement of sensorimotor interactions in dystonic patients. Brain 2002;125:2719-30
   PubMedGoogle Scholar
• Bara-Jimenez W, Catalan MJ, Hallett M, Abnormal somatosensory homunculus in dystonia of the hand. Ann Neurol 1998;44:828-31
   PubMed Web of Science ®Google Scholar
• Nelson AJ, Blake DT, Chen R. Digit-specific aberrations in the primary somatosensory cortex in Writer's cramp. Ann Neurol 2009;66:146-54
   PubMedGoogle Scholar
• Lim J, Hao T, Shaw C, A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell 2006;125:801-14
   PubMed Web of Science ®Google Scholar
• Vila M, Przedborski S. Genetic clues to the pathogenesis of Parkinson's disease. Nat Med 2004;10(Suppl):S58-62
   Google Scholar
• Stone EA, Lin Y, Quartermain D. A final common pathway for depression? Progress toward a general conceptual framework. Neurosci Biobehav Rev 2008;32:508-24
   PubMedGoogle Scholar
• Benatar M. Lost in translation: treatment trials in the SOD1 mouse and in human ALS. Neurobiol Dis 2007;26:1-13
   PubMed Web of Science ®Google Scholar
• Friese MA, Montalban X, Willcox N, The value of animal models for drug development in multiple sclerosis. Brain 2006;129:1940-52
   PubMedGoogle Scholar