Useful links, training resources, evidence and publications – Cerebellar 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).
• Kearney M, Orrell RW, Fahey M, Brassington R, Pandolfo Pharmacological treatments for Friedreich ataxia. M.Cochrane Database Syst Rev. 2016 Aug 30;(8):CD007791. doi: 10.1002/14651858.CD007791.pub4. Review.PMID:27572719
• 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; Ataxia-telangiectasia: recommendations for multidisciplinary treatment. A-T Study Group.Dev Med Child Neurol. 2017 Jul;59(7):680-689. doi: 10.1111/dmcn.13424. Epub 2017 Mar 20. Review.
•  Schulz JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, Pousset F, Schöls L, Vankan P, Pandolfo M. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol. 2009;5(4):222-34.
• Szmulewicz DJ, Roberts L, McLean CA, MacDougall HG, Halmagyi GM, Storey E. Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) 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
• W. Ilg and D. Timmann, Gait ataxia-specific cerebellar influences and their rehabilitation. 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

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

CONSENSUS PAPERS

• van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O. EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. Eur J Neurol. 2014 Apr;21(4):552-62. doi: 10.1111/ene.12341. Epub 2014 Jan 13.
• W. Ilg, A. J. Bastian, S. Boesch, et al., Management of degenerative cerebellar disorders, Cerebellum, vol. 13, no. 2, pp. 248–268, 2014
• Neuroimaging
• Sequeiros J, Seneca S, Martindale J. Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. Eur J Hum Genet. 2010 Nov;18(11):1188-95. doi: 10.1038/ejhg.2010.10. Epub 2010 Feb 24.
• 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. Consensus Paper: Revisiting the Symptoms and Signs of Cerebellar Syndrome. Cerebellum. 2016;15(3):369-91.
• 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. Consensus paper: radiological biomarkers of cerebellar diseases. Cerebellum. 2015;14(2):175-96.