Skip to main content

Advertisement

SpringerLink
Log in

Therapies for Ataxias

  • MOVEMENT DISORDERS (O SUCHOWERSKY, SECTION EDITOR)
  • Published:
Current Treatment Options in Neurology Aims and scope Submit manuscript

Opinion statement

Ataxia can originate from many genetic defects, but also from nongenetic causes. To be able to provide treatment, the first step is to establish the right diagnosis. Once the cause of the ataxia is defined, some specific treatments may be available. For example, the nongenetic ataxias that arise from vitamin deficiencies can improve following treatment. In most cases, however, therapies do not cure the disease and are purely symptomatic. Physiotherapy and occupational therapy are effective in all type of ataxias and often remain the most efficient treatment option for these patients to maximize their quality of life.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References and Recommended Reading

Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

  1. Jayadev S, Bird TD. Hereditary ataxias: overview. Genet Med. 2013;15:673–83.

    CAS  PubMed  Google Scholar 

  2. van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Durr A, Giunti P, et al. EFNS/ENS consensus on the diagnosis and management of chronic ataxias in adulthood. Eur J Neurol. 2014;21:552–62.

    PubMed  Google Scholar 

  3. Marquer A, Barbieri G, Perennou D. The assessment and treatment of postural disorders in cerebellar ataxia: a systematic review. Ann Phys Rehabil Med. 2014;57:67–78.

    CAS  PubMed  Google Scholar 

  4. Miyai I. Challenge of neurorehabilitation for cerebellar degenerative diseases. Cerebellum. 2012;11:436–7.

    CAS  PubMed  Google Scholar 

  5. Ilg W, Schatton C, Schicks J, Giese MA, Schols L, Synofzik M. Video game-based coordinative training improves ataxia in children with degenerative ataxia. Neurology. 2012;79:2056–60.

    PubMed  Google Scholar 

  6. Saute JA, de Castilhos RM, Monte TL, Schumacher-Schuh AF, Donis KC, D'Avila R, et al. A randomized, phase 2 clinical trial of lithium carbonate in Machado-Joseph disease. Mov Disord. 2014;29:568–73.

    CAS  PubMed  Google Scholar 

  7. 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.

    PubMed Central  PubMed  Google Scholar 

  8. Jia DD, Zhang L, Chen Z, Wang CR, Huang FZ, Duan RH, et al. Lithium chloride alleviates neurodegeneration partly by inhibiting activity of GSK3beta in a SCA3 Drosophila model. Cerebellum. 2013;12:892–901.

    CAS  PubMed  Google Scholar 

  9. Ulatowski L, Parker R, Warrier G, Sultana R, Butterfield DA, Manor D. Vitamin E is essential for Purkinje neuron integrity. Neuroscience. 2014;260:120–9.

    CAS  PubMed  Google Scholar 

  10. Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet. 1995;9:141–5.

    CAS  PubMed  Google Scholar 

  11. Di Donato I, Bianchi S, Federico A. Ataxia with vitamin E deficiency: update of molecular diagnosis. Neurol Sci. 2010;31:511–5.

    PubMed  Google Scholar 

  12. Schuelke M, Mayatepek E, Inter M, Becker M, Pfeiffer E, Speer A, et al. Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. J Pediatr. 1999;134:240–4.

    CAS  PubMed  Google Scholar 

  13. Sokol RJ, Guggenheim MA, Iannaccone ST, Barkhaus PE, Miller C, Silverman A, et al. Improved neurologic function after long-term correction of vitamin E deficiency in children with chronic cholestasis. N Engl J Med. 1985;313:1580–6.

    CAS  PubMed  Google Scholar 

  14. Khatun I, Walsh MT, Hussain MM. Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. J Lipid Res. 2013;54:1541–9.

    CAS  PubMed Central  PubMed  Google Scholar 

  15. Hammer MB, El Euch-Fayache G, Nehdi H, Feki M, Maamouri-Hicheri W, Hentati F, et al. Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. J Clin Neurosci. 2014;21:311–5.

    CAS  PubMed  Google Scholar 

  16. Lee J, Hegele RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. J Inherit Metab Dis. 2014;37(3):333–9.

  17. Frydman M, Bonne-Tamir B, Farrer LA, Conneally PM, Magazanik A, Ashbel S, et al. Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. Proc Natl Acad Sci U S A. 1985;82:1819–21.

    CAS  PubMed Central  PubMed  Google Scholar 

  18. European Association for Study of EASL Clinical Practice Guidelines. Wilson's disease. J Hepatol. 2012;56:671–85.

    Google Scholar 

  19. Lorincz MT. Neurologic Wilson's disease. Ann N Y Acad Sci. 2010;1184:173–87.

    CAS  PubMed  Google Scholar 

  20. Weiss KH, Stremmel W. Evolving perspectives in Wilson disease: diagnosis, treatment and monitoring. Curr Gastroenterol Rep. 2012;14:1–7.

    PubMed  Google Scholar 

  21. Lorincz MT. Recognition and treatment of neurologic Wilson's disease. Semin Neurol. 2012;32:538–43.

    PubMed  Google Scholar 

  22. Weiss LH, Thurik F, Gotthardt DN, Schafer M, Teufel U, Wiegand F, et al. Consortium. Efficacy and safety of oral chelators in treatment of patients with Wilson disease. Clin Gastroenterol Hepatol. 2013;11:1028–35. e1021‒2.

    CAS  PubMed  Google Scholar 

  23. Kim B, Chung SJ, Shin HW. Trientine-induced neurological deterioration in a patient with Wilson's disease. J Clin Neurosci. 2013;20:606–8.

    PubMed  Google Scholar 

  24. Brewer GJ. The use of copper-lowering therapy with tetrathiomolybdate in medicine. Expert Opin Investig Drugs. 2009;18:89–97.

    CAS  PubMed  Google Scholar 

  25. Czlonkowska A, Litwin T, Karlinski M, Dziezyc K, Chabik G, Czerska M. D-penicillamine versus zinc sulfate as first-line therapy for Wilson's disease. Eur J Neurol. 2014;21:599–606.

    CAS  PubMed  Google Scholar 

  26. Reynolds HV, Talekar CR, Bellapart J, Leggett BA, Boots RJ. Copper removal strategies for Wilson's disease crisis in the ICU. Anaesth Intensive Care. 2014;42:253–7.

    CAS  PubMed  Google Scholar 

  27. Guillaud O, Dumortier J, Sobesky R, Debray D, Wolf P, Vanlemmens C, et al. Long-term results of liver transplantation for Wilson's disease: experience in France. J Hepatol. 2014;60:579–89.

    PubMed  Google Scholar 

  28. Merle U, Stremmel W, Encke J. Perspectives for gene therapy of Wilson disease. Curr Gene Ther. 2007;7:217–20.

    CAS  PubMed  Google Scholar 

  29. Mihalik SJ, Morrell JC, Kim D, Sacksteder KA, Watkins PA, Gould SJ. Identification of PAHX, a Refsum disease gene. Nat Genet. 1997;17:185–9.

    CAS  PubMed  Google Scholar 

  30. van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, et al. Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet. 2003;72:471–7.

    PubMed Central  PubMed  Google Scholar 

  31. Wierzbicki AS, Lloyd MD, Schofield CJ, Feher MD, Gibberd FB. Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. J Neurochem. 2002;80:727–35.

    CAS  PubMed  Google Scholar 

  32. Wierzbicki AS, Mitchell J, Lambert-Hammill M, Hancock M, Greenwood J, Sidey MC, et al. Identification of genetic heterogeneity in Refsum's disease. Eur J Hum Genet. 2000;8:649–51.

    CAS  PubMed  Google Scholar 

  33. Baldwin EJ, Gibberd FB, Harley C, Sidey MC, Feher MD, Wierzbicki AS. The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease. J Neurol Neurosurg Psychiatry. 2010;81:954–7.

    PubMed  Google Scholar 

  34. Hungerbuhler JP, Meier C, Rousselle L, Quadri P, Bogousslavsky J. Refsum's disease: management by diet and plasmapheresis. Eur Neurol. 1985;24:153–9.

    CAS  PubMed  Google Scholar 

  35. Zolotov D, Wagner S, Kalb K, Bunia J, Heibges A, Klingel. Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis. J Clin Apher. 2012;27:99–105.

    CAS  PubMed  Google Scholar 

  36. Koeppen AH. Friedreich's ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci. 2011;303:1–12.

    CAS  PubMed Central  PubMed  Google Scholar 

  37. Gomes CM, Santos R. Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress. Oxidative Med Cell Longev. 2013;2013:487534.

    Google Scholar 

  38. Isaya G. Mitochondrial iron-sulfur cluster dysfunction in neurodegenerative disease. Front Pharmacol. 2014;5:29.

    PubMed Central  PubMed  Google Scholar 

  39. Parkinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P. Clinical features of Friedreich's ataxia: classical and atypical phenotypes. J Neurochem. 2013;126 Suppl 1:103–17.

    CAS  PubMed  Google Scholar 

  40. Payne RM, Wagner GR. Cardiomyopathy in Friedreich ataxia: clinical findings and research. J Child Neurol. 2012;27:1179–86.

    PubMed Central  PubMed  Google Scholar 

  41. Salih MA, Ahlsten G, Stalberg E, Schmidt R, Sunnegardh J, Michaelsson M, et al. Friedreich's ataxia in 13 children: presentation and evolution with neurophysiologic, electrocardiographic, and echocardiographic features. J Child Neurol. 1990;5:321–6.

    CAS  PubMed  Google Scholar 

  42. Perlman SL. A review of Friedreich ataxia clinical trial results. J Child Neurol. 2012;27:1217–22.

    PubMed  Google Scholar 

  43. Pandolfo M, Hausmann L. Deferiprone for the treatment of Friedreich's ataxia. J Neurochem. 2013;126 Suppl 1:142–6.

    CAS  PubMed  Google Scholar 

  44. Velasco-Sanchez D, Aracil A, Montero R, Mas A, Jimenez L, O'Callaghan M, et al. Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia. Cerebellum. 2011;10:1–8.

    CAS  PubMed  Google Scholar 

  45. Schols 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.

    CAS  PubMed  Google Scholar 

  46. 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.

    CAS  PubMed  Google Scholar 

  47. Hart PE, Lodi R, Rajagopalan B, Bradley JL, Crilley FG, Turner C, et al. Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up. Arch Neurol. 2005;62:621–6.

    PubMed  Google Scholar 

  48. Soragni E, Xu C, Plasterer HL, Jacques V, Rusche JR, Gottesfeld JM. Rationale for the development of 2-aminobenzamide histone deacetylase inhibitors as therapeutics for Friedreich ataxia. J Child Neurol. 2012;27:1164–73.

    PubMed Central  PubMed  Google Scholar 

  49. Gottesfeld JM, Rusche JR, Pandolfo M. Increasing frataxin gene expression with histone deacetylase inhibitors as a therapeutic approach for Friedreich's ataxia. J Neurochem. 2013;126 Suppl 1:147–54.

    CAS  PubMed Central  PubMed  Google Scholar 

  50. Marmolino D, Acquaviva F. Friedreich's Ataxia: from the (GAA)n repeat mediated silencing to new promising molecules for therapy. Cerebellum. 2009;8:245–59.

    CAS  PubMed  Google Scholar 

  51. Nachbauer W, Boesch S, Schneider R, Eigentler A, Wanschitz J, Poewe W, et al. Bioenergetics of the calf muscle in Friedreich ataxia patients measured by 31P-MRS before and after treatment with recombinant human erythropoietin. PLoS One. 2013;8:e69229.

    CAS  PubMed Central  PubMed  Google Scholar 

  52. Mariotti C, Nachbauer W, Panzeri M, Poewe W, Taroni F, Boesch S. Erythropoietin in Friedreich ataxia. J Neurochem. 2013;126 Suppl 1:80–7.

    CAS  PubMed  Google Scholar 

  53. Richardson TE, Kelly HN, Yu AE, Simpkins JW. Therapeutic strategies in Friedreich's ataxia. Brain Res. 2013;1514:91–7.

    CAS  PubMed  Google Scholar 

  54. Gallus GN, Dotti MT, Federico A. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci. 2006;27:143–9.

    CAS  PubMed  Google Scholar 

  55. Moghadasian MH. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds. Clin Invest Med. 2004;27:42–50.

    CAS  PubMed  Google Scholar 

  56. Arlazoroff A, Roitberg B, Werber E, Shidlo R, Berginer VM. Epileptic seizure as a presenting symptom of cerebrotendinous xanthomatosis. Epilepsia. 1991;32:657–61.

    CAS  PubMed  Google Scholar 

  57. Grandas F, Martin-Moro M, Garcia-Munozguren S, Anaya F. Early-onset parkinsonism in cerebrotendinous xanthomatosis. Mov Disord. 2002;17:1396–7.

    PubMed  Google Scholar 

  58. Alcalay R, Wu S, Patel S, Frucht S. Oromandibular dystonia as a complication of cerebrotendinous xanthomatosis. Mov Disord. 2009;24:1397–9.

    PubMed  Google Scholar 

  59. Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, et al. Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. Eur J Neurol. 2011;18:1203–11.

    CAS  PubMed  Google Scholar 

  60. Chen SF, Tsai NW, Chang SS, Lu CH, Huang CR, Chuang YC, et al. Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis. BMC Neurol. 2011;11:63.

    PubMed Central  PubMed  Google Scholar 

  61. Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 2009;72:750–9.

    PubMed Central  PubMed  Google Scholar 

  62. Berginer VM, Salen G, Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med. 1984;311:1649–52.

    CAS  PubMed  Google Scholar 

  63. Yahalom G, Tsabari R, Molshatzki N, Ephraty L, Cohen H, Hassin-Baer S. Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid: early versus late diagnosis. Clin Neuropharmacol. 2013;36:78–83.

    CAS  PubMed  Google Scholar 

  64. Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature. 1988;336:577–80.

    CAS  PubMed  Google Scholar 

  65. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 1995;268:1749–53.

    CAS  PubMed  Google Scholar 

  66. Woods CG, Taylor AM. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med. 1992;82:169–79.

    CAS  PubMed  Google Scholar 

  67. Perlman S, Becker-Catania S, Gatti RA. Ataxia-telangiectasia: diagnosis and treatment. Semin Pediatr Neurol. 2003;10:173–82.

    PubMed  Google Scholar 

  68. Verhagen MM, Abdo WF, Willemsen MA, Hogervorst FB, Smeets DF, Hiel JA, et al. Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology. 2009;73:430–7.

    CAS  PubMed  Google Scholar 

  69. 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.

    CAS  PubMed  Google Scholar 

  70. 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.

    CAS  PubMed  Google Scholar 

  71. Giardino G, Fusco A, Romano R, Gallo V, Maio F, Esposito T, et al. Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis. Eur J Neurol. 2013;20:740–7.

    CAS  PubMed  Google Scholar 

  72. Lavin MF, Gueven N, Bottle S, Gatti RA. Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia. Br Med Bull. 2007;81–82:129–47.

    PubMed  Google Scholar 

  73. Spiegel R, Raas-Rothschild A, Reish O, Regev M, Meiner V, Bargal R, et al. The clinical spectrum of fetal Niemann-Pick type C. Am J Med Genet A. 2009;149A:446–50.

    CAS  PubMed  Google Scholar 

  74. Vanier MT. Phenotypic and genetic heterogeneity in Niemann-Pick disease type C: current knowledge and practical implications. Wien Klin Wochenschr. 1997;109:68–73.

    CAS  PubMed  Google Scholar 

  75. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16.

    PubMed Central  PubMed  Google Scholar 

  76. Mengel E, Klunemann HH, Lourenco CM, Hendriksz CJ, Sedel F, Walterfang M, et al. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis. 2013;8:166.

    PubMed Central  PubMed  Google Scholar 

  77. Sevin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, et al. The adult form of Niemann-Pick disease type C. Brain. 2007;130:120–33.

    PubMed  Google Scholar 

  78. Anheim M, Lagha-Boukbiza O, Fleury-Lesaunier MC, Valenti-Hirsch MP, Hirsch E, Gervais-Bernard H, et al. Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease. J Neurol. 2014;261:174–9.

    PubMed  Google Scholar 

  79. Lyseng-Williamson KA. Miglustat: a review of its use in Niemann-Pick disease type C. Drugs. 2014;74:61–74.

    CAS  PubMed  Google Scholar 

  80. Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F. NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012;106:330–44.

  81. Maceyka M, Milstien S, Spiegel S. The potential of histone deacetylase inhibitors in Niemann - Pick type C disease. FEBS J. 2013;280:6367–72.

    CAS  PubMed  Google Scholar 

  82. Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW. CINCH investigators. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain. 2007;130:2484–93.

  83. Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, et al. Spauschus. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol. 2000;48:647–56.

    CAS  PubMed  Google Scholar 

  84. Graves TD, Cha YH, Hahn AF, Barohn R, Salajegheh MK, Griggs RC, et al. CINCH investigators Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. Brain. 2014;137:1009–18.

  85. Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet. 1994;8:136–40.

    CAS  PubMed  Google Scholar 

  86. Spacey SD, Hildebrand ME, Materek LA, Bird TD, Snutch TP. Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. Ann Neurol. 2004;56:213–20.

    CAS  PubMed  Google Scholar 

  87. Jen J. Familial episodic ataxias and related ion channel disorders. Curr Treat Options Neurol. 2000;2:429–31.

    PubMed  Google Scholar 

  88. 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.

    CAS  PubMed Central  PubMed  Google Scholar 

  89. 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.

    PubMed  Google Scholar 

  90. 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.

    CAS  PubMed  Google Scholar 

  91. Strupp M, Zwergal A, Brandt T. Episodic ataxia type 2. Neurotherapeutics. 2007;4:267–73.

    CAS  PubMed  Google Scholar 

  92. Hazell AS. Astrocytes are a major target in thiamine deficiency and Wernicke's encephalopathy. Neurochem Int. 2009;55:129–35.

    CAS  PubMed  Google Scholar 

  93. Di Gangi S, Gizzo S, Patrelli TS, Saccardi C, D'Antona D, Nardelli GB. Wernicke's encephalopathy complicating hyperemesis gravidarum: from the background to the present. J Maternal Fetal Neonatal Med. 2012;25:1499–504.

    Google Scholar 

  94. Spruill SC, Kuller JA. Hyperemesis gravidarum complicated by Wernicke's encephalopathy. Obstet Gynecol. 2002;99:875–7.

    PubMed  Google Scholar 

  95. Hung SC, Hung SH, Tarng DC, Yang WC, Chen TW, Huang TP. Thiamine deficiency and unexplained encephalopathy in hemodialysis and peritoneal dialysis patients. Am J Kidney Dis. 2001;38:941–7.

    CAS  PubMed  Google Scholar 

  96. Sullivan EV, Fama R. Wernicke's encephalopathy and Korsakoff's syndrome revisited. Neuropsychol Rev. 2012;22:69–71.

    PubMed  Google Scholar 

  97. Schabelman E, Kuo D. Glucose before thiamine for Wernicke encephalopathy: a literature review. J Emerg Med. 2012;42:488–94.

    PubMed  Google Scholar 

  98. Kumar N. Neurologic aspects of cobalamin (B12) deficiency. Handb Clin Neurol. 2014;120:915–26.

    PubMed  Google Scholar 

  99. Kalita J, Chandra S, Bhoi SK, Agarwal R, Misra UK, Shankar SK, Mahadevan A. Clinical, nerve conduction and nerve biopsy study in vitamin B12 deficiency neurological syndrome with a short-term follow-up. Nutri Neurosci. 2013. doi:10.1179/1476830513Y.0000000073.

  100. Briani C, Dalla Torre C, Citton V, Manara R, Pompanin S, Binotto G, et al. Cobalamin deficiency: clinical picture and radiological findings. Nutrients. 2013;5:4521–39.

    PubMed Central  PubMed  Google Scholar 

  101. Stabler SP. Vitamin B12 deficiency. N Engl J Med. 2013;368:2041–2.

    CAS  PubMed  Google Scholar 

  102. Reynolds EH. The neurology of folic acid deficiency. Handb Clin Neurol. 2014;120:927–43.

    CAS  PubMed  Google Scholar 

  103. Pfeiffer RF. Neurologic manifestations of malabsorption syndromes. Handb Clin Neurol. 2014;120:621–32.

    PubMed  Google Scholar 

  104. Becker DA, Balcer LJ, Galetta SL. The neurological complications of nutritional deficiency following bariatric surgery. J Obes. 2012;2012:608534.

    PubMed Central  PubMed  Google Scholar 

  105. Jaiser SR, Winston GP. Copper deficiency myelopathy. J Neurol. 2010;257:869–81.

    CAS  PubMed Central  PubMed  Google Scholar 

  106. Pineles SL, Wilson CA, Balcer LJ, Slater R, Galetta SL. Combined optic neuropathy and myelopathy secondary to copper deficiency. Surv Ophthalmol. 2010;55:386–92.

    PubMed  Google Scholar 

  107. Kumar N. Neurologic presentations of nutritional deficiencies. Neurol Clin. 2010;28:107–70.

    PubMed  Google Scholar 

  108. Goodman BP, Bosch EP, Ross MA, Hoffman-Snyder C, Dodick DD, Smith BE. Clinical and electrodiagnostic findings in copper deficiency myeloneuropathy. J Neurol Neurosurg Psychiatry. 2009;80:524–7.

    CAS  PubMed  Google Scholar 

  109. Prodan CI, Rabadi M, Vincent AS, Cowan LD. Copper supplementation improves functional activities of daily living in adults with copper deficiency. J Clin Neuromuscul Dis. 2011;12:122–8.

    PubMed  Google Scholar 

  110. Evans-Galea MV, Pebay A,Dottori M, Corben LA, Ong SH, Lockhart PJ, Delatycki MB. Cell and gene therapy for Friedreich ataxia - progress to date. Hum Gene Ther. 2014. doi:10.1089/hum.2013.180.

Download references

Compliance with Ethics Guidelines

Conflict of Interest Laurence Martineau, Anne Noreau, and Nicolas Dupré declare that they have no conflicts of interest.

Human and Animal Rights and Informed Consent This article does not contain any studies with human or animal subjects performed by any of the authors.

Author information

Authors and Affiliations

  1. Department of Neurological Sciences of the Centre Hopitalier Universitaire de Québec and Faculty of Medicine, CHU de Québec, Laval University, 1401, 18th Street, Quebec City, Quebec, G1J 1Z4, Canada

    Laurence Martineau MD & Nicolas Dupré MD, MSc, FRCP(C)

  2. Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada

    Anne Noreau MSc

  3. Department of Pathology and Cellular Biology, Université de Montréal, Montreal, Quebec, Canada

    Anne Noreau MSc

Authors
  1. Laurence Martineau MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Anne Noreau MSc
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Nicolas Dupré MD, MSc, FRCP(C)
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Nicolas Dupré MD, MSc, FRCP(C).

Additional information

This article is part of the Topical Collection on Movement Disorders

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Martineau, L., Noreau, A. & Dupré, N. Therapies for Ataxias. Curr Treat Options Neurol 16, 300 (2014). https://doi.org/10.1007/s11940-014-0300-y

Download citation

  • Published:

  • DOI: https://doi.org/10.1007/s11940-014-0300-y

Keywords

Search

Navigation