Ataxia

DEFINITION

According to euro-ataxia, "ataxia is the name given to a group of rare neurological disorders that affect balance, coordination and speech. There are many different types of ataxia that can affect people in different ways." Please find more information on euro-ataxia's website.

GUIDELINES RELEVANT FOR ATAXIAS

  • Consensus clinical management guidelines for Friedreich ataxia. Louise A Corben, David Lynch, Massimo Pandolfo, Jörg B Schulz, Martin B Delatycki Orphanet Journal of Rare Diseases 2014, 9:184 doi:10.1186/s13023-014-0184-7
  • EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS. Eur J Neurol. 2010 Feb;17(2):179-88. doi: 10.1111/j.1468-1331.2009.02873.x. Epub 2009 Dec 28.

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.

DIAGNOSTIC ALGORITHMS

  • A recessive ataxia diagnosis algorithm for the next generation sequencing era. Renaud M, Tranchant C, Martin JVT, Mochel F, Synofzik M, van de Warrenburg B, Pandolfo M, Koenig M, Kolb SA, Anheim M; RADIAL Working Group.Collaborators (69)
  • Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases. Mallaret M, Renaud M, Redin C, Drouot N, Muller J, Severac F, Mandel JL, Hamza W, Benhassine T, Ali-Pacha L, Tazir M, Durr A, Monin ML, Mignot C, Charles P, Van Maldergem L, Chamard L, Thauvin-Robinet C, Laugel V, Burglen L, Calvas P, Fleury MC, Tranchant C, Anheim M, Koenig M. J Neurol. 2016;263(7):1314-22.
  • Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update. Poretti A, Wolf NI, Boltshauser E. Neuropediatrics. 2015;46(6):359-70.
  • Diagnosis and management of early- and late-onset cerebellar ataxia. Brusse E, Maat-Kievit JA, van Swieten JC. Clin Genet. 2007;71(1):12-24.

EVIDENCE

Medical management and pharmacological treatment
  • 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
  • Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review. Milne SC, Corben LA, Georgiou-Karistianis N, Delatycki MB, Yiu EM. Neurorehabil Neural Repair. 2017;31(7):609-622.
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.

REGISTRIES

Friedreich Ataxia Studies
Spinocerebellar Ataxia Studies
Other Ataxia Studies

CLINICAL RATING SCALES

Scale for the Assessment and Rating of Ataxia (SARA)

SARA is a clinical scale that is based on a semi quantitative assessment of cerebellar ataxia on an impairment level. SARA has 8 items that are related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test. Although the cerebellum is directly involved in the coordination of eye movements, oculomotor functions are not considered, as the validation trials indicated that they are determined by other factors than appendicular and midline ataxia. SARA underwent a rigorous validation procedure involving three large multi-center trials in SCA and non-SCA ataxia patients as well as controls.

  • Schmitz-Hübsch T, Tezenas du Montcel S, Baliko L, Berciano J, Boesch S et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006;66:1717-1720
  • Weyer A, Abele M, Schmitz-Hübsch T, Schoch B, Frings M et al. Reliability and validity of the Scale for the Assessment and Rating of Ataxia: A Study in 64 ataxia patients. Mov Disord 2007;22:1633-1637
  • You can find the SARA here
Inventory of Non Ataxia Symptoms (INAS)

INAS evaluates the presence and severity of non-cerebellar signs that are often part of the clinical phenotype. It includes 30 items.

  • Schmitz-Hübsch T, Coudert M, Bauer P, et al. Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. Neurology 2008;71:982–989
  • Schmitz-Hübsch T, Fimmers R, Rakowicz M, Rola R, Zdzienicka E, Fancellu R et al. Responsiveness of different rating instruments in spinocerebellar ataxia patients. Neurology 2010;74:678-84
Composite Cerebellar Functional Severity score (CCFS)

CCFS includes two tests performed with the dominant hand,named the click test and the 9 holes pegboard test (9HPT). An electronic device was created to perform CCFS and to calculate the Z score by subtracting the expected time.

  • du Montcel ST, Charles P, Ribai P, et al. Composite cerebellarfunctional severity score: validation of a quantitative score of cerebellar impairment. Brain. 2008;131:1352–1361.
  • Pierucci AF, Mariotti C, Panzeri M, Giunti P, Boesch SM, Schulz JBB, Pandolfo M, Durr A, and Tezenas du Montcel S. Quantifiable evaluation of cerebellar signs in children. Neurology, 2015;84:1225-32 (CCFS in children)
SCA Functional Index (SCAFI)

SCAFI includes three timed functional tests: eight meter walking test (8MWT), nine holes pegboard test with dominant and non-dominant hand (9HPT), and PATA rate

  • Schmitz-Hubsch T, Giunti P, Stephenson DA, et al. SCA FunctionalIndex: a useful compound performance measure for spinocerebellarataxia. Neurology. 2008;71:486–492.
modified Rating Scale for Friedreich's Ataxia (FARS mod)

The FARS was developed in 2005 from a larger scale devised by the Cooperative Ataxia Group to evaluate functional and neurological deficits, with a greater weight given to gait and stance.The full neurological FARS is divided into 5 sections: bulbar, upper limb coordination, lower limb coordination, peripheral nervous system, and upright stability.

  • The modified FARS is not a separate assessment, but rather calculated as the full FARS neurological assessment minus section D (peripheral nervous system). The modified FARS includes 4 sections: bulbar, upper limb coordination, lower limb coordination, and upright stability.
  • Subramony SH, May W, Lynch D, Gomez C, Fischbeck K, Hallett M, et al. Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology. 2005;64:1261–2

NETWORKS AND STUDY GROUPS

PATIENT ORGANISATIONS

Textversion - ausgeblendet

ATAXIA RESOURCES

Guidelines relevant for Ataxias

  • Consensus clinical management guidelines for Friedreich ataxia. Louise A Corben, David Lynch, Massimo Pandolfo, Jörg B Schulz, Martin B Delatycki Orphanet Journal of Rare Diseases 2014, 9:184 doi:10.1186/s13023-014-0184-7
  • EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS. Eur J Neurol. 2010 Feb;17(2):179-88. doi: 10.1111/j.1468-1331.2009.02873.x. Epub 2009 Dec 28.

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.

Diagnostic algorithms

  • A recessive ataxia diagnosis algorithm for the next generation sequencing era.Renaud M, Tranchant C, Martin JVT, Mochel F, Synofzik M, van de Warrenburg B, Pandolfo M, Koenig M, Kolb SA, Anheim M; RADIAL Working Group.Collaborators (69)
  • Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases. Mallaret M, Renaud M, Redin C, Drouot N, Muller J, Severac F, Mandel JL, Hamza W, Benhassine T, Ali-Pacha L, Tazir M, Durr A, Monin ML, Mignot C, Charles P, Van Maldergem L, Chamard L, Thauvin-Robinet C, Laugel V, Burglen L, Calvas P, Fleury MC, Tranchant C, Anheim M, Koenig M. J Neurol. 2016;263(7):1314-22.
  • Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update. Poretti A, Wolf NI, Boltshauser E. Neuropediatrics. 2015;46(6):359-70.
  • Diagnosis and management of early- and late-onset cerebellar ataxia. Brusse E, Maat-Kievit JA, van Swieten JC. Clin Genet. 2007;71(1):12-24.

Evidence

Medical management and pharmacological treatment
  • 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
  • Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review. Milne SC, Corben LA, Georgiou-Karistianis N, Delatycki MB, Yiu EM. Neurorehabil Neural Repair. 2017;31(7):609-622.
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.

Registries

Friedreich Ataxia Studies
Spinocerebellar Ataxia Studies
Other Ataxia Studies

Clinical Rating Scales

Scale for the Assessment and Rating of Ataxia (SARA)
  • Schmitz-Hübsch T, Tezenas du Montcel S, Baliko L, Berciano J, Boesch S et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006;66:1717-1720
  • Weyer A, Abele M, Schmitz-Hübsch T, Schoch B, Frings M et al. Reliability and validity of the Scale for the Assessment and Rating of Ataxia: A Study in 64 ataxia patients. Mov Disord 2007;22:1633-1637.
  • SARA is a clinical scale that is based on a semiquantitative assessment of cerebellar ataxia on an impairment level. SARA has 8 items that are related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test. Although the cerebellum is directly involved in the coordination of eye movements, oculomotor functions are not considered, as the validation trials indicated that they are determined by other factors than appendicular and midline ataxia. SARA underwent a rigorous validation procedure involving three large multi-center trials in SCA and non-SCA ataxia patients, as well as controls.
INAS: Inventory of Non Ataxia Symptoms

INAS evaluates the presence and severity of non-cerebellar signs that are often part of the clinical phenotype. It includes30 items

  • Schmitz-Hübsch T, Coudert M, Bauer P, et al. Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. Neurology 2008;71:982–989.
  • Schmitz-Hübsch T, Fimmers R, Rakowicz M, Rola R, Zdzienicka E, Fancellu R et al. Responsiveness of different rating instruments in spinocerebellar ataxia patients. Neurology 2010;74:678-84
CCFS: Composite Cerebellar Functional Severity score

CCFS includes two tests performed with the dominant hand,named the click test and the 9 holes pegboard test (9HPT). An electronic device was created to perform CCFS and to calculate the Z score by subtracting the expected time.

  • du Montcel ST, Charles P, Ribai P, et al. Composite cerebellarfunctional severity score: validation of a quantitative score of cerebellar impairment. Brain. 2008;131:1352–1361.
  • Pierucci AF, Mariotti C, Panzeri M, Giunti P, Boesch SM, Schulz JBB, Pandolfo M, Durr A, and Tezenas du Montcel S. Quantifiable evaluation of cerebellar signs in children. Neurology, 2015;84:1225-32 (CCFS in children)
SCAFI: SCA Functional Index

SCAFI includes three timed functional tests: eight meter walking test (8MWT), nine holes pegboard test with dominant and non-dominant hand (9HPT), and PATA rate

  • Schmitz-Hubsch T, Giunti P, Stephenson DA, et al. SCA FunctionalIndex: a useful compound performance measure for spinocerebellarataxia. Neurology. 2008;71:486–492.
FARS mod: modified Rating Scale for Friedreich's Ataxia

The FARS was developed in 2005 from alarger scale devised by the Cooperative Ataxia Group toevaluate functional and neurological deficits, with a greaterweight given to gait and stance.The full neurologic FARS is divided into 5 sections: bulbar, upper limb coordination, lower limb coordination, peripheral nervous system, and upright stability

  • The modified FARS is not a separate assessment, but rather calculated as the full FARS neurological assessment minus section D (peripheral nervous system). The modified FARS includes 4 sections: bulbar, upper limb coordination, lower limb coordination, and upright stability.
  • Subramony SH, May W, Lynch D, Gomez C, Fischbeck K, Hallett M, et al. Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology. 2005;64:1261–2

Networks and study groups

Advocacy and support groups