Useful links, training resources, evidence and publications – Ataxia

EVIDENCE

Medical management and pharmacological treatment

  • Vogel AP, Keage MJ, Johansson K, Schalling E. Treatment for dysphagia (swallowing difficulties) in hereditary ataxia. Cochrane Database Syst Rev. 2015;13(11):CD010169.
  • Trujillo-Martín MM, Serrano-Aguilar P, Monton-Alvarez F, Carrillo-Fumero R. Effectiveness and safety of treatments for degenerative ataxias: a systematic review. Mov Disord. 24, 1111–1124 (2009).
  • Pharmacological treatments for Friedreich ataxia.Kearney M, Orrell RW, Fahey M, Brassington R, Pandolfo M.Cochrane Database Syst Rev. 2016 Aug 30;(8):CD007791. doi: 10.1002/14651858.CD007791.pub4. Review.PMID:27572719
  • Ataxia-telangiectasia: recommendations for multidisciplinary treatment.van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de Warrenburg BPC, Willemsen MAAP; A-T Study Group.Dev Med Child Neurol. 2017 Jul;59(7):680-689. doi: 10.1111/dmcn.13424. Epub 2017 Mar 20. Review.
  • Diagnosis and treatment of Friedreich ataxia: a European perspective. Schulz JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, Pousset F, Schöls L, Vankan P, Pandolfo M. Nat Rev Neurol. 2009;5(4):222-34.
  • Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Szmulewicz DJ, Roberts L, McLean CA, MacDougall HG, Halmagyi GM, Storey E. Neurol Clin Pract. 2016;6(1):61-68.

Physical Therapy and neurorehabilitative treatments

  • Ilg, M. Synofzik, D. Brötz, S. Burkard, M. A. Giese, and L. Schöls, “Intensive coordinative training improves motor performance in degenerative cerebellar disease,” Neurology, vol. 73, no. 22, pp. 1823–1830, 2009;
  • Ilg, D. Brötz, S. Burkard, M. A. Giese, L. Schöls, and M. Synofzik, “Long-term effects of coordinative training in degenerative cerebellar disease,” Movement Disorders, vol. 25, no. 13, pp. 2239–2246, 2010.
  • Synofzik M, Ilg W (2014) Motor Training in Degenerative Spinocerebellar Disease: Ataxia-Specific Improvements by Intensive Physiotherapy and Exergames. BioMed Research International 2014:Article ID 583507
  • Gait ataxia-specific cerebellar influences and their rehabilitation. W. Ilg and D. Timmann, Movement Disorders, vol. 28, no. 11, pp. 1566–1575, 2013
  • Miyai I, Ito M, Hattori N et al. (2012) Cerebellar ataxia rehabilitation trial in degenerative cerebellar diseases. Neurorehabil Neural Repair 26:515-522
  • Milne SC, Corben LA, Georgiou-Karistianis N, Delatycki MB, Yiu EM. Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review. Neurorehabil Neural Repair. 2017;31(7):609-622.
  • Braga,N.P. et al. Current concepts in the treatment of hereditary ataxias. Arq Neuropsiquiatr. 74, 244-252 (2016).
  • Fonteyn,E.M. et al. The effectiveness of allied health care in patients with ataxia: a systematic review. J. Neurol. 261, 251-258 (2014).

Speech and communication

  • Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes. Vogel AP, Folker J, Poole ML Cochrane Database Syst Rev. 2014 Oct 28;10:CD008953. doi: 10.1002/14651858.CD008953.
  • Treatment for dysphagia (swallowing difficulties) in hereditary ataxia.Vogel AP, Keage MJ, Johansson K, Schalling E.Cochrane Database Syst Rev. 2015 Nov 13;(11):CD010169. doi: 10.1002/14651858.CD010169.pub2. Review.PMID:26564018
  • Dysphagia and swallowing-related quality of life in Friedreich ataxia. Vogel AP, Brown SE, Folker JE, Corben LA, Delatycki MB. J Neurol. 2014; 261(2):392-9.

CONSENSUS PAPERS

  • EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O. Eur J Neurol. 2014 Apr;21(4):552-62. doi: 10.1111/ene.12341. Epub 2014 Jan 13.
  • Management of degenerative cerebellar disorders, W. Ilg, A. J. Bastian, S. Boesch, et al., Cerebellum, vol. 13, no. 2, pp. 248–268, 2014
  • Neuroimaging: www.guideline.gov/content.aspx?id=37932
  • Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. Sequeiros J, Seneca S, Martindale J.Eur J Hum Genet. 2010 Nov;18(11):1188-95. doi: 10.1038/ejhg.2010.10. Epub 2010 Feb 24.
  • Consensus Paper: Revisiting the Symptoms and Signs of Cerebellar Syndrome. Bodranghien F, Bastian A, Casali C, Hallett M, Louis ED, Manto M, Mariën P, Nowak DA, Schmahmann JD, Serrao M, Steiner KM, Strupp M, Tilikete C, Timmann D, van Dun K.Cerebellum. 2016;15(3):369-91.
  • Consensus paper: radiological biomarkers of cerebellar diseases. Baldarçara L, Currie S, Hadjivassiliou M, Hoggard N, Jack A, Jackowski AP, Mascalchi M, Parazzini C, Reetz K, Righini A, Schulz JB, Vella A, Webb SJ, Habas C. Cerebellum. 2015;14(2):175-96.