Consensus paper: Management of degenerative cerebellar disorders

Cerebellum

Volumn 13, Issue 2, 2014, Pages 248-268

  Ilg, W ^a   Bastian, A J ^b   Boesch, S ^c   Burciu, R G ^d   Celnik, P ^b   Claassen J ^d,e   Feil, K ^e   Kalla, R ^e   Miyai, I ^f   Nachbauer, W ^c   Schols L ^a,g   Strupp, M ^e   Synofzik, M ^a,g   Teufel, J ^e   Timmann, D ^d  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^d UNIVERSITY HOSPITAL ESSEN   (Germany)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^f OSAKA UNIVERSITY   (Japan)

^g GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

Author keywords

Cerebellar ataxia; Cerebellum; Drug therapy; Motor rehabilitation; Physiotherapy

Indexed keywords

3,4 DIAMINOPYRIDINE; 4 AMINOPYRIDINE; ACETAZOLAMIDE; ALPHA TOCOPHEROL; ALPHA TOCOPHERYLQUINONE; AMANTADINE; AMINOPYRIDINE DERIVATIVE; BACLOFEN; BETAMETHASONE; BUSPIRONE; CARNITINE; CHLORZOXAZONE; COTRIMOXAZOLE; DEFERIPRONE; EPI A0001; FRATAXIN; HISTONE DEACETYLASE INHIBITOR; IDEBENONE; IMMUNOGLOBULIN; LEUCINE; LITHIUM CARBONATE; METHYLPREDNISOLONE; PLACEBO; RECOMBINANT ERYTHROPOIETIN; RILUZOLE; UBIDECARENONE; UNCLASSIFIED DRUG; VARENICLINE; ZINC SULFATE;

ALPHA TOCOPHEROL DEFICIENCY; ATAXIA; ATAXIA TELANGIECTASIA; BRAIN DEPTH STIMULATION; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CONSENSUS DEVELOPMENT; CORD BLOOD STEM CELL TRANSPLANTATION; DIET SUPPLEMENTATION; DRUG DOSE COMPARISON; DRUG DOSE INCREASE; DRUG DOSE TITRATION; DRUG EFFICACY; DRUG MECHANISM; DRUG SUBSTITUTION; DRUG WITHDRAWAL; EVIDENCE BASED MEDICINE; FRIEDREICH ATAXIA; GAIT DISORDER; HUMAN; INCREASED APPETITE; INTERNATIONAL COOPERATIVE ATAXIA RATING SCALE; LEARNING; MEDICAL RESEARCH; MESENCHYMAL STEM CELL TRANSPLANTATION; MOON FACE; MOTOR COORDINATION; MOTOR DYSFUNCTION; MOTOR PERFORMANCE; NAMED INVENTORIES, QUESTIONNAIRES AND RATING SCALES; NEPHROLITHIASIS; NYSTAGMUS; OCCUPATIONAL THERAPY; OLIVOPONTOCEREBELLAR ATROPHY; PATIENT CARE; PHASE 3 CLINICAL TRIAL (TOPIC); PHYSIOTHERAPY; PRACTICE GUIDELINE; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL (TOPIC); RECOMMENDED DRUG DOSE; REVIEW; SIDE EFFECT; SPEECH THERAPY; SPINOCEREBELLAR DEGENERATION; TRAINING; WEIGHT GAIN;

ADOLESCENT; ADULT; ANIMALS; ANTI-DYSKINESIA AGENTS; CEREBELLAR ATAXIA; CHILD; HUMANS; NEURODEGENERATIVE DISEASES; SPINOCEREBELLAR DEGENERATIONS;

EID: 84896314738     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-013-0531-6     Document Type: Review

References (160)

1. Strupp M, Schuler O, Krafczyk S, Jahn K, Schautzer F, Buttner U, et al. Treatment of downbeat nystagmus with 3,4-diaminopyridine: a placebo-controlled study. Neurology. 2003;61:165-70. (Pubitemid 36875295)
2. Strupp M, Kalla R, Claassen J, Adrion C, Mansmann U, Klopstock T, et al. A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias. Neurology. 2011;77:269-75.
3. Kandel M, Beis JM, Le Chapelain L, Guesdon H, Paysant J. Non-invasive cerebral stimulation for the upper limb rehabilitation after stroke: a review. Ann Phys Rehabil Med. 2012;55:657-80.
4. Bowden MG, Woodbury ML, Duncan PW. Promoting neuroplasticity and recovery after stroke: future directions for rehabilitation clinical trials. Curr Opin Neurol. 2013;26:37-42.
5. Walker MF, Sunnerhagen KS, Fisher RJ. Evidence-based community stroke rehabilitation. Stroke. 2013;44:293-7.
6. Ilg W, Synofzik M, Brotz D, Burkard S, Giese MA, Schols L. Intensive coordinative training improves motor performance in degenerative cerebellar disease. Neurology. 2009;73:1823-30.
7. Miyai I, Ito M, Hattori N, Mihara M, Hatakenaka M, Yagura H, et al. Cerebellar ataxia rehabilitation trial in degenerative cerebellar diseases. Neurorehabil Neural Repair. 2012;26:515-22.
8. Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 1996;87:543-52. (Pubitemid 26374327)
9. Jen J, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology. 2004;62:17-22. (Pubitemid 38082863)
10. Griggs RC, Moxley 3rd RT, Lafrance RA, McQuillen J. Hereditary paroxysmal ataxia: response to acetazolamide. Neurology. 1978;28:1259-64. (Pubitemid 9030411)
11. Strupp M, Kalla R, Dichgans M, Freilinger T, Glasauer S, Brandt T. Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine. Neurology. 2004;62:1623-5. (Pubitemid 38608211)
12. Alvina K, Khodakhah K. The therapeutic mode of action of 4-aminopyridine in cerebellar ataxia. J Neurosci. 2010;30:7258-68.
13. Weisz CJ, Raike RS, Soria-Jasso LE, Hess EJ. Potassium channel blockers inhibit the triggers of attacks in the calcium channel mouse mutant tottering. J Neurosci. 2005;25:4141-5. (Pubitemid 40563390)
14. Claassen J, Teufel J, Kalla R, Spiegel R, Strupp M. Effects of dalfampridine on attacks in patients with episodic ataxia type 2: an observational study. J Neurol. 2013;260:668-9.
15. Hufner K, Stephan T, Kalla R, Deutschlander A, Wagner J, Holtmannspotter M, et al. Structural and functional MRIs disclose cerebellar pathologies in idiopathic downbeat nystagmus. Neurology. 2007;69:1128-35. (Pubitemid 47517558)
16. Wagner JN, Glaser M, Brandt T, Strupp M. Downbeat nystagmus: aetiology and comorbidity in 117 patients. J Neurol Neurosurg Psychiatry. 2008;79:672-7. (Pubitemid 351829440)
17. Kalla R, Deutschlander A, Hufner K, Stephan T, Jahn K, Glasauer S, et al. Detection of floccular hypometabolism in downbeat nystagmus by fMRI. Neurology. 2006;66:281-3. (Pubitemid 43970177)
18. Kalla R, Glasauer S, Buttner U, Brandt T, Strupp M. 4- Aminopyridine restores vertical and horizontal neural integrator function in downbeat nystagmus. Brain. 2007;130:2441-51. (Pubitemid 47327634)
19. Tsunemi T, Ishikawa K, Tsukui K, Sumi T, Kitamura K, Mizusawa H. The effect of 3,4-diaminopyridine on the patients with hereditary pure cerebellar ataxia. J Neurol Sci. 2010;292:81-4.
20. Kalla R, Spiegel R, Claassen J, Bardins S, Hahn A, Schneider E, et al. Comparison of 10-mg doses of 4-aminopyridine and 3,4-diaminopyridine for the treatment of downbeat nystagmus. J Neuroophthalmol. 2011;31:320-5.
21. Judge SI, Bever Jr CT. Potassium channel blockers in multiple sclerosis: neuronal Kv channels and effects of symptomatic treatment. Pharmcol Ther. 2006;111:224-59. (Pubitemid 43765538)
22. Claassen J, Spiegel R, Kalla R, Faldon M, Kennard C, Danchaivijitr C, et al. A randomised double-blind, cross-over trial of 4-aminopyridine for downbeat nystagmus - effects on slowphase eye velocity, postural stability, locomotion and symptoms. J Neurol Neurosurg Psychiatry. 2013. doi:10.1136/jnnp-2012-304736
23. Feil K, Claaßen J, Bardins S, Teufel J, Krafczyk S, Schneider E, et al. Effect of chlorzoxazone in patients with downbeat nystagmus: a pilot trial. Neurology. 2013;81:1152-8.
24. Averbuch-Heller L, Tusa RJ, Fuhry L, Rottach KG, Ganser GL, Heide W, et al. A double-blind controlled study of gabapentin and baclofen as treatment for acquired nystagmus. Ann Neurol. 1997;41:818-25. (Pubitemid 27249189)
25. Schniepp R, Jakl V, Wuehr M, Havla J, Kumpfel T, Dieterich M, et al. Treatment with 4-aminopyridine improves upper limb tremor of a patient with multiple sclerosis: a video case report. Mult Scler. 2013;19:506-8.
26. Schniepp R, Wuehr M, Ackl N, Danek A, Brandt T, Strupp M, et al. 4-Aminopyridine improves gait variability in cerebellar ataxia due to CACNA 1A mutation. J Neurol. 2011;258:1708-11.
27. Schniepp R, Wuehr M, Neuhaeusser M, Benecke AK, Adrion C, Brandt T, et al. 4-Aminopyridine and cerebellar gait: a retrospective case series. J Neurol. 2012;259:2491-3.
28. Giordano I, Bogdanow M, Jacobi H, Jahn K, Minnerop M, Schoels L, et al. Experience in a short-term trial with 4-aminopyridine in cerebellar ataxia. J Neurol. 2013; 260:2175-6
29. Etzion Y, Grossman Y. Highly 4-aminopyridine sensitive delayed rectifier current modulates the excitability of guinea pig cerebellar Purkinje cells. Exp Brain Res. 2001;139:419-25. (Pubitemid 32703948)
30. Hourez R, Servais L, Orduz D, Gall D, Millard I, de Kerchove d'Exaerde A, et al. Aminopyridines correct early dysfunction and delay neurodegeneration in a mouse model of spinocerebellar ataxia type 1. J Neurosci. 2011;31:11795-807.
31. Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, et al. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain. 2009;132:2688-98.
32. Le Ber I, Dubourg O, Benoist JF, Jardel C, Mochel F, Koenig M, et al. Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. Neurology. 2007;68:295-7. (Pubitemid 46148344)
33. Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, et al. Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. J Med Genet. 2011;48:713-5.
34. Epplen C, Epplen JT, Frank G, Miterski B, Santos EJ, Schöls L. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene. Hum Genet. 1997;99:834-6. (Pubitemid 27243768)
35. Stemmler TL, Lesuisse E, Pain D, Dancis A. Frataxin and mitochondrial FeS cluster biogenesis. J Biol Chem. 2010;285:26737-43.
36. Di Prospero NA, Baker A, Jeffries N, Fischbeck KH. Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurol. 2007;6:878-86. (Pubitemid 47404985)
37. Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci. 1997;145:205-11. (Pubitemid 27121687)
38. Mariotti C, Solari A, Torta D, Marano L, Fiorentini C, Di Donato S. Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology. 2003;60:1676-9. (Pubitemid 36618100)
39. Schöls L, Vorgerd M, Schillings M, Skipka G, Zange J. Idebenone in patients with Friedreich ataxia. Neurosci Lett. 2001;306:169-72. (Pubitemid 32530826)
40. Lagedrost SJ, Sutton MS, Cohen MS, Satou GM, Kaufman BD, Perlman SL, et al. Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA). Am Heart J. 2011;161:639-45.
41. Meier T, Perlman SL, Rummey C, Coppard NJ, Lynch DR. Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study. J Neurol. 2012;259:284-91.
42. Kearney M, Orrell RW, Fahey M, Pandolfo M. Antioxidants and other pharmacological treatments for Friedreich ataxia. Cochrane Database Syst Rev. 2012;4:CD007791. Review.
43. Lodi R, Hart PE, Rajagopalan B, Taylor DJ, Crilley JG, Bradley JL, et al. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia. Ann Neurol. 2001;49:590-6. (Pubitemid 32429786)
44. Hart PE, Lodi R, Rajagopalan B, Bradley JL, Crilley JG, Turner C, et al. Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up. Arch Neurol. 2005;62:621-6. (Pubitemid 40489896)
45. Cooper JM, Korlipara LV, Hart PE, Bradley JL, Schapira AH. Coenzyme Q10 and vitamin E deficiency in Friedreich's ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapy. Eur J Neurol. 2008;15:1371-9.
46. Lynch DR, Willi SM, Wilson RB, Cotticelli MG, Brigatti KW, Deutsch EC, et al. A0001 in Friedreich ataxia: biochemical characterization and effects in a clinical trial. Mov Disord. 2012;27:1026-33.
47. Schöls L, Zange J, Abele M, Schillings M, Skipka G, Kuntz-Hehner S, et al. L-Carnitine and creatine in Friedreich's ataxia. A randomized, placebo-controlled crossover trial. J Neural Transm. 2005;112:789-96. (Pubitemid 40655570)
48. Velasco-Sánchez D, Aracil A, Montero R, Mas A, Jiménez L, O'Callaghan M, et al. Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia. Cerebellum. 2011;10:1-8.
49. Boesch S, Sturm B, Hering S, Goldenberg H, Poewe W, Scheiber-Mojdehkar B. Friedreich 's ataxia: clinical pilot trial with recombinant human erythropoietin. Ann Neurol. 2007;62:521-4. (Pubitemid 350308777)
50. Subramony SH, May W, Lynch D, Gomez C, Fischbeck K, Hallett M, et al. Cooperative Ataxia Group. Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology. 2005;64:1261-2.
51. Schmitz-Hubsch T, duMontcel ST, Baliko L, Berciano J, Boesch S, Depondt C, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66:1717-20. (Pubitemid 43964628)
52. Boesch S, Sturm B, Hering S, Scheiber-Mojdehkar B, Steinkellner H, Goldenberg H, et al. Neurological effects of recombinant human erythropoietin in Friedreich 's ataxia: a clinical pilot trial. Mov Disord. 2008;23:1940-4.
53. Mariotti C, Fancellu R, Caldarazzo S, Nanetti L, Di Bella D, Plumari M, et al. Erythropoietin in Friedreich ataxia: no effect on frataxin in a randomized controlled trial. Mov Disord. 2012;27:446-9.
54. Gabsi S, Gouider-Khouja N, Belal S, Fki M, Kefi M, Turki I, et al. Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. Eur J Neurol. 2001;8:477-81. (Pubitemid 34203442)
55. Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, et al. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci. 2004;25:130-7. (Pubitemid 39136660)
56. Hentati F, El-Euch G, Bouhlal Y, Amouri R. Ataxia with vitamin E deficiency and abetalipoproteinemia. Handb Clin Neurol. 2012;103:295-305.
57. Kohlschütter A. Abetalipoproteinemia. In: Klockgether T, editor. Handbook of ataxia disorders. New York: Marcel Dekker; 2000. p. 206-17.
58. Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, et al. Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Arch Neurol. 2012;69:978-83.
59. Musumeci O, Naini A, Slonim AE, Skavin N, Hadjigeorgiou GL, Krawiecki N, et al. Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology. 2001;56:849-55. (Pubitemid 32290800)
60. Artuch R, Brea-Calvo G, Briones P, Aracil A, Galvan M, Espinos C, et al. Cerebellar ataxia with coenzyme Q(10) deficiency: diagnosis and follow-up after coenzyme Q(10) supplementation. J Neurol Sci. 2006;246:153-8.
61. Auré K, Benoist JF, Ogier de Baulny H, Romero NB, Rigal O, Lombès A. Progression despite replacement of a myopathic form of coenzyme Q10 defect. Neurology. 2004;63:727-9. (Pubitemid 39100837)
62. Buoni S, Zannolli R, Sorrentino L, Fois A. Betamethasone and improvement of neurological symptoms in ataxia-telangiectasia. Arch Neurol. 2006;63:1479-82. (Pubitemid 44547562)
63. Broccoletti T, Del Giudice E, Cirillo E, Vigliano I, Giardino G, Ginocchio VM, et al. Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia. Eur J Neurol. 2011;18:564-70.
64. Zannolli R, Buoni S, Betti G, Salvucci S, Plebani A, Soresina A, et al. A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia. Mov Disord. 2012;27:1312-6.
65. Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010;9:885-94.
66. Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, et al. The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology. 2011;77:1035-41.
67. Schmitz-Hubsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L, et al. Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. Neurology. 2008;71:982-9.
68. Jacobi H, Reetz K, du Montcel ST, Bauer P, Mariotti C, Nanetti L, et al. Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data. Lancet Neurol. 2013;12:650-8.
69. Ristori G, Romano S, Visconti A, Cannoni S, Spadaro M, Frontali M, et al. Riluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled pilot trial. Neurology. 2010;74:839-45.
70. Zesiewicz TA, Greenstein PE, Sullivan KL, Wecker L, Miller A, Jahan I, et al. A randomized trial of varenicline (Chantix) for the treatment of spinocerebellar ataxia type 3. Neurology. 2012;78:545-50.
71. Connolly BS, Prashanth LK, Shah BB, Marras C, Lang AE. Comment on a randomized trial of varenicline (Chantix) for the treatment of spinocerebellar ataxia type 3. Neurology. 2012;79:2218.
72. Filla A, Sacca F, De Michele G. Comment on a randomized trial of varenicline (Chantix) for the treatment of spinocerebellar ataxia type 3. Neurology. 2012;78:1538.
73. Strupp M, Teufel J, Habs M, Feuerecker R, Muth C, van de Warrenburg BP, et al. Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series. J Neurol. 2013; 260:2556-61.
74. Yabe I, Sasaki H, Yamashita I, Takei A, Tashiro K. Clinical trial of acetazolamide in SCA6, with assessment using the Ataxia Rating Scale and body stabilometry. Acta Neurol Scand. 2001;104:44-7. (Pubitemid 32588399)
75. Botez MI, Botez-Marquard T, Elie R, Pedraza OL, Goyette K, Lalonde R. Amantadine hydrochloride treatment in heredodegenerative ataxias: a double blind study. J Neurol Neurosurg Psychiatry. 1996;61:259-64. (Pubitemid 26293720)
76. Velázquez-Pérez L, Rodríguez-Chanfrau J, García-Rodríguez JC, Sánchez-Cruz G, Aguilera- Rodríguez R, Rodríguez-Labrada R, et al. Oral zinc sulphate supplementation for six months in SCA2 patients: a randomized, double-blind, placebo-controlled trial. Neurochem Res. 2011;36:1793-800.
77. Hering S, Achmuller C, Kohler A, Poewe W, Schneider R, Boesch SM. Phenotype variability in spinocerebellar ataxia type 2: a longitudinal family survey and a case featuring an unusual benign course of disease. Mov Disord. 2009;24:774-7.
78. Watase K, Gatchel JR, Sun Y, Emamian E, Atkinson R, Richman R, et al. Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. PLoS Med. 2007;4:e182.
79. Xia H, Mao Q, Eliason SL, Harper SQ, Martins IH, Orr HT, et al. RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. Nat Med. 2004;10:816-20. (Pubitemid 39070854)
80. Alves S, Nascimento-Ferreira I, Auregan G, Hassig R, Dufour N, Brouillet E, et al. Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease. PLoS One. 2008;3:e3341.
81. Tsou WL, Soong BW, Paulson HL, Rodriguez-Lebron E. Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6. Neurobiol Dis. 2011;43:533-42.
82. Ilg W, Timmann D. Gait ataxia - specific cerebellar influences and their rehabilitation. Mov Disord. 2013;28:1566-75.
83. Deuschl G, Toro C, Zeffiro T, Massaquoi S, Hallett M. Adaptation motor learning of arm movements in patients with cerebellar disease. J Neurol Neurosurg Psychiatry. 1996;60:515-9. (Pubitemid 26147892)
84. Martin TA, Keating JG, Goodkin HP, Bastian AJ, Thach WT. Throwing while looking through prisms. I. Focal olivocerebellar lesions impair adaptation. Brain. 1996;119:1183-98. (Pubitemid 26300720)
85. Maschke M, Gomez CM, Ebner TJ, Konczak J. Hereditary cerebellar ataxia progressively impairs force adaptation during goal-directed arm movements. J Neurophysiol. 2004;91:230-8. (Pubitemid 38084368)
86. Smith MA, Shadmehr R. Intact ability to learn internal models of arm dynamics in Huntington's disease but not cerebellar degeneration. J Neurophysiol. 2005;93:2809-21. (Pubitemid 40570859)
87. Synofzik M, Lindner A, Thier P. The cerebellum updates predictions about the visual consequences of one's behavior. Curr Biol. 2008;18:814-8.
88. Bastian AJ. Learning to predict the future: the cerebellum adapts feedforward movement control. Curr Opin Neurobiol. 2006;16:645-9. (Pubitemid 44791921)
89. Marsden J, Harris C. Cerebellar ataxia: pathophysiology and rehabilitation. Clin Rehabil. 2011;25:195-216.
90. Thach WT, Bastian AJ. Role of the cerebellum in the control and adaptation of gait in health and disease. Prog Brain Res. 2004;143:353-66. (Pubitemid 37443009)
91. Balliet R, Harbst KB, Kim D, Stewart RV. Retraining of functional gait through the reduction of upper extremity weight-bearing in chronic cerebellar ataxia. Int Rehabil Med. 1987;8:148-53.
92. Gill-Body KM, Popat RA, Parker SW, Krebs DE. Rehabilitation of balance in two patients with cerebellar dysfunction. Phys Ther. 1997;77:534-52. (Pubitemid 27204085)
93. Cernak K, Stevens V, Price R, Shumway-Cook A. Locomotor training using body-weight support on a treadmill in conjunction with ongoing physical therapy in a child with severe cerebellar ataxia. Phys Ther. 2008;88:88-97.
94. Freund JE, Stetts DM. Use of trunk stabilization and locomotor training in an adult with cerebellar ataxia: a single system design. Physiother Theory Pract. 2010;26:447-58.
95. Vaz DV, Schettino Rde C, Rolla de Castro TR, Teixeira VR, Cavalcanti Furtado SR, de Mello Figueiredo E. Treadmill training for ataxic patients: a single-subject experimental design. Clin Rehabil. 2008;22:234-41. (Pubitemid 351460992)
96. Ilg W, Brötz D, Burkard S, Giese MA, Schöls L, Synofzik M. Long-term effects of coordinative training in degenerative cerebellar disease. Mov Disord. 2010;25:2239-46.
97. Keith RA, Granger CV, Hamilton BB, Sherwin FS. The functional independence measure: a new tool for rehabilitation. Adv Clin Rehabil. 1987;1:6-18.
98. Morton SM, Bastian AJ. Can rehabilitation help ataxia? Neurology. 2009;73:1818-9.
99. Hatakenaka M, Miyai I, Mihara M, Yagura H, Hattori N. Impaired motor learning by a pursuit rotor test reduces functional outcomes during rehabilitation of poststroke ataxia. Neurorehabil Neural Repair. 2012;26:293-300.
100. Bastian AJ. Mechanisms of ataxia. Phys Ther. 1997;77:672-5. (Pubitemid 27259745)
101. Cassidy E, Kilbridge C, Holland A. Management of the ataxias: towards best clinical practice-physiotherapy supplement. London: Ataxia UK; 2009.
102. Crowdy KA, Kaur-Mann D, Cooper HL, Mansfield AG, Offord JL, Marple-Horvat DE. Rehearsal by eye movement improves visuomotor performance in cerebellar patients. Exp Brain Res. 2002;146:244-7. (Pubitemid 34994866)
103. Gillen G. Improving mobility and community access in an adult with ataxia. Am J Occup Ther. 2002;56:462-6.
104. Harris-Love MO, Siegel KL, Paul SM, Benson K. Rehabilitation management of Friedreich ataxia: lower extremity force-control variability and gait performance. Neurorehabil Neural Repair. 2004;18:117-24. (Pubitemid 38924187)
105. Battisti C, Toffola ED, Verri AP, Serra E, Dotti MT, Formichi P, et al. Clinical and stabilometric monitoring in a case of cerebellar atrophy with vitamin E deficiency. Brain Dev. 1998;20:253-7. (Pubitemid 28287037)
106. Ilg W, Schatton C, Schicks J, Giese MA, Schoels L, Synofzik M. Video game-based coordinative training improves ataxia in children with degenerative ataxia. Neurology. 2012;79:2056-60.
107. Buonomano DV, Merzenich MM. Cortical plasticity: from synapses to maps. Annu Rev Neurosci. 1998;21:149-86. Review. (Pubitemid 28150662)
108. Stinear CM, Ward NS. How useful is imaging in predicting outcomes in stroke rehabilitation? Int J Stroke. 2013;8:33-7.
109. Grefkes C, Fink GR. Reorganization of cerebral networks after stroke: new insights from neuroimaging with connectivity approaches. Brain. 2011;134:1264-76.
110. Wessel K, Zeffiro T, Lou JS, Toro C, Hallett M. Regional cerebral blood flow during a self-paced sequential finger opposition task in patients with cerebellar degeneration. Brain. 1995;118:379-93.
111. Wessel K, Nitschke MF. Cerebellar somatotopic representation and cerebro-cerebellar interconnections in ataxic patients. Prog Brain Res. 1997;114:577-88. (Pubitemid 27244995)
112. Kinomoto K, Takayama Y, Watanabe T, Kawasaki T, Onishi K, Yagi H, et al. The mechanisms of recovery from cerebellar infarction: an fMRI study. Neuroreport. 2003;14:1671-5. (Pubitemid 37323751)
113. Mihara M, Miyai I, Hatakenaka M, Kubota K, Sakoda S. Sustained prefrontal activation during ataxic gait: a compensatory mechanism for ataxic stroke? Neuroimage. 2007;37:1338-45. (Pubitemid 47385280)
114. Burciu RG, Fritsche N, Granert O, Schmitz L, Spönemann N, Konczak J, et al. Brain changes associated with postural training in patients with cerebellar degeneration: a voxel-based morphometry study. J Neurosci. 2013;33:4594-604.
115. Klintsova AY, Scamra C, Hoffman M, Napper RM, Goodlett CR, Greenough WT. Therapeutic effects of complex motor training on motor performance deficits induced by neonatal binge-like alcohol exposure in rats: II. A quantitative stereological study of synaptic plasticity in female rat cerebellum. Brain Res. 2002;937:83-93. (Pubitemid 34521769)
116. Schoch B, Dimitrova A, Gizewski ER, Timmann D. Functional localization in the human cerebellum based on voxelwise statistical analysis: a study of 90 patients. Neuroimage. 2006;30:36-51. (Pubitemid 43243195)
117. Konczak J, Schoch B, Dimitrova A, Gizewski E, Timmann D. Functional recovery of children and adolescents after cerebellar tumour resection. Brain. 2005;128:1428-41. (Pubitemid 40826195)
118. Fernández-Seara MA, Aznárez-Sanado M, Mengual E, Loayza FR, Pastor MA. Continuous performance of a novel motor sequence leads to highly correlated striatal and hippocampal perfusion increases. Neuroimage. 2009;47:1797-808.
119. Siebner HR, Rothwell J. Transcranial magnetic stimulation: new insights into representational cortical plasticity. Exp Brain Res. 2003;148:1-16. (Pubitemid 35435791)
120. Nitsche MA, Paulus W. Transcranial direct current stimulation - update 2011. Restor Neurol Neurosci. 2011;29:463-92.
121. Ugawa Y, Uesaka Y, Terao Y, Hanajima R, Kanazawa I. Magnetic stimulation over the cerebellum in humans. Ann Neurol. 1995;37:703-13.
122. Daskalakis ZJ, Paradiso GO, Christensen BK, Fitzgerald PB, Gunraj C, Chen R. Exploring the connectivity between the cerebellum and motor cortex in humans. J Physiol. 2004;557:689-700. (Pubitemid 38807403)
123. Schlerf JE, Galea JM, Bastian AJ, Celnik PA. Dynamic modulation of cerebellar excitability for abrupt, but not gradual, visuomotor adaptation. J Neurosci. 2012;32:11610-7.
124. Jayaram G, Celnik P, Bastian A. Cerebellar stimulation prolongs symmetric walking post stroke. Program No. 276.21/MM14. 2012 Neuroscience Meeting Planner. New Orleans: Society for Neuroscience, 2012. Online.
125. Galea JM, Jayaram G, Ajagbe L, Celnik P. Modulation of cerebellar excitability by polarity-specific noninvasive direct current stimulation. J Neurosci. 2009;29:9115-22.
126. Popa T, Russo M, Meunier S. Long-lasting inhibition of cerebellar output. Brain Stimul. 2010;3:161-9.
127. Oliveri M, Koch G, Torriero S, Caltagirone C. Increased facilitation of the primary motor cortex following 1 Hz repetitive transcranial magnetic stimulation of the contralateral cerebellum in normal humans. Neurosci Lett. 2005;376:188-93. (Pubitemid 40255307)
128. Koch G, Oliveri M, Torriero S, Salerno S, Lo Gerfo E, Caltagirone C. Repetitive TMS of cerebellum interferes with millisecond time processing. Exp Brain Res. 2007;179:291-9. (Pubitemid 46676150)
129. Fierro B, Giglia G, Palermo A, Pecoraro C, Scalia S, Brighina F. Modulatory effects of 1 Hz rTMS over the cerebellum on motor cortex excitability. Exp Brain Res. 2007;176:440-7. (Pubitemid 46009128)
130. Galea JM, Vazquez A, Pasricha N, de Xivry JJ, Celnik P. Dissociating the roles of the cerebellum and motor cortex during adaptive learning: the motor cortex retains what the cerebellum learns. Cereb Cortex. 2011;21(8):1761-70.
131. Jayaram G, Tang B, Pallegadda R, Vasudevan EV, Celnik P, Bastian A. Modulating locomotor adaptation with cerebellar stimulation. J Neurophysiol. 2012;107:2950-7.
132. Pope PA, Miall RC. Task-specific facilitation of cognition by cathodal transcranial direct current stimulation of the cerebellum. Brain Stimul. 2012;5:84-94.
133. Ferrucci R, Giannicola G, Rosa M, Fumagalli M, Boggio PS, Hallett M, et al. Cerebellum and processing of negative facial emotions: cerebellar transcranial DC stimulation specifically enhances the emotional recognition of facial anger and sadness. Cogn Emot. 2012;26:786-99.
134. Shiga Y, Tsuda T, Itoyama Y, Shimizu H, Miyazawa KI, Jin K, et al. Transcranial magnetic stimulation alleviates truncal ataxia in spinocerebellar degeneration. J Neurol Neurosurg Psychiatry. 2002;72:124-6. (Pubitemid 34073113)
135. Koch G. rTMS effects on levodopa induced dyskinesias in Parkinson's disease patients: searching for effective cortical targets. Restor Neurol Neurosci. 2010;28:561-8.
136. Popa T, Russo M, Vidailhet M, Roze E, Lehéricy S, Bonnet C, et al. Cerebellar rTMS stimulation may induce prolonged clinical benefits in essential tremor, and subjacent changes in functional connectivity: an open label trial. Brain Stimul. 2012;6:175-9.
137. Flora ED, Perera CL, Cameron AL, Maddern GJ. Deep brain stimulation for essential tremor: a systematic review. Mov Disord. 2010;25:1550-9.
138. Fonteyn EM, Keus SH, Verstappen CC, van de Warrenburg BP. Physiotherapy in degenerative cerebellar ataxias: utilisation, patient satisfaction, and professional expertise. Cerebellum. 2013;12:841-7.
139. Fonteyn EM, Keus SH, Verstappen CC, Schöls L, de Groot IJ, van deWarrenburg BP. The effectiveness of allied health care in patients with ataxia: a systematic review. J Neurol. 2013. doi:10.1007/s00415-013-6910-6
140. Daker-White G, Greenfield J, Ealing J. "Six sessions is a drop in the ocean": an exploratory study of neurological physiotherapy in idiopathic and inherited ataxias. Physiotherapy. 2013. doi:10.1016/j.physio. 2013.02.001
141. Vearrier LA, Langan J, Shumway-Cook A, Woollacott M. An intensive massed practice approach to retraining balance post-stroke. Gait Posture. 2005;22:154-63. (Pubitemid 41749352)
142. Fryer JD, Yu P, Kang H, Mandel-Brehm C, Carter AN, Crespo-Barreto J, et al. Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science. 2011;334:690-3.
143. Safdar A, Bourgeois JM, Ogborn DI, Little JP, Hettinga BP, Akhtar M, et al. Endurance exercise rescues progeroid aging and induces systemic mitochondrial rejuvenation in mtDNA mutator mice. Proc Natl Acad Sci U S A. 2011;108:4135-40.
144. Taylor JA, Klemfuss NM, Ivry RB. An explicit strategy prevails when the cerebellum fails to compute movement errors. Cerebellum. 2010;9:580-6.
145. Criscimagna-Hemminger SE, Bastian AJ, Shadmehr R. Size of error affects cerebellar contributions to motor learning. J Neurophysiol. 2010;103:2275-84.
146. Gibo TL, Criscimagna-Hemminger SE, Okamura AM, Bastian AJ. Cerebellar motor learning: are environment dynamics more important than error size? J Neurophysiol. 2013; 110:322-33.
147. Schlerf JE, Xu J, Klemfuss NM, Griffiths TL, Ivry RB. Individuals with cerebellar degeneration show similar adaptation deficits with large and small visuomotor errors. J Neurophysiol. 2013;109:1164-73.
148. Kalla R, Glasauer S, Schautzer F, Lehnen N, Büttner U, Strupp M, et al. 4-Aminopyridine improves downbeat nystagmus, smooth pursuit, and VOR gain. Neurology. 2004;62:1228-9. (Pubitemid 38456530)
149. Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, Sidi D, Munnich A, Rötig A. Effect of idebenone on cardiomyopathy in Friedreich 's ataxia: a preliminary study. Lancet. 1999;354:477-9. (Pubitemid 29368927)
150. Hausse AO, Aggoun Y, Bonnet D, Sidi D, Munnich A, Rötig A, et al. Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart. 2002;87:346-9. (Pubitemid 34270947)
151. Rustin P, Rötig A, Munnich A, Sidi D. Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia. Free Radic Res. 2002;36:467-9. (Pubitemid 35154096)
152. Artuch R, Aracil A, Mas A, Colomé C, Rissech M, Monrós E, et al. Friedreich's ataxia: idebenone treatment in early stage patients. Neuropediatrics. 2002;33:190-3.
153. Buyse G, Mertens L, Di Salvo G, Matthijs I, Weidemann F, Eyskens B, et al. Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring. Neurology. 2003;60:1679-81. (Pubitemid 36618101)
154. Ribaï P, Pousset F, Tanguy ML, Rivaud-Pechoux S, Le Ber I, Gasparini F, et al. Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Arch Neurol. 2007;64:558-64. (Pubitemid 46588346)
155. Pineda M, Arpa J, Montero R, Aracil A, Domínguez F, Galván M, et al. Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up. Eur J Paediatr Neurol. 2008;12:470-5.
156. Lynch DR, Perlman SL, Meier T. A phase 3, double-blind, placebo-controlled trial of idebenone in Friedreich ataxia. Arch Neurol. 2010;67:941-7.
157. Assadi M, Campellone JV, Janson CG, Veloski JJ, Schwartzman RJ, Leone P. Treatment of spinocerebellar ataxia with buspirone. J Neurol Sci. 2007;260:143-6. (Pubitemid 47212219)
158. Schulte T, Mattern R, Berger K, Szymanski S, Klotz P, Kraus PH, et al . Double-blind crossover trial of trimethoprimsulfamethoxazole in spinocerebellar ataxia type 3/Machado-Joseph disease. Arch Neurol. 2001;58:1451-7. (Pubitemid 32845998)
159. Berg K, Wood-Dauphinee S, Williams J, Gayton D. Measuring balance in the elderly: preliminary development of an instrument. Physiother Can. 1989;41:304-11. (Pubitemid 20026286)
160. Kiresuk TJ, Smith A, Cardillo JEE. Goal attainment scaling: applications, theory and measurement. Hillsdale: Lawrence Erlbaum Associates; 1994.