Skip to main content

Advertisement

SpringerLink
Log in

Deafness and Vestibulopathy in Cerebellar Diseases: a Practical Approach

  • Review
  • Published:
The Cerebellum Aims and scope Submit manuscript

Abstract

Cerebellar ataxias are a clinically heterogeneous group of neurological disorders. Besides the cerebellum, several forms of hereditary ataxias or non-genetic ataxias also affect other areas of the brain. Some forms of cerebellar ataxias may have cochlear and vestibular involvement and may present with deafness and symptoms or signs of vestibulopathy (dizziness, nystagmus and diplopia). Recognizing otoneurological symptoms in patients with cerebellar ataxias is mandatory, since these signs may guide a specific diagnosis, and clinicians may provide a suitable therapeutic approach. In this review, we describe and discuss the most common forms of cerebellar ataxias associated with deafness and vestibulopathy.

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.

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Teive HA, Ashizawa T. Primary and secondary ataxias. Curr Opin Neurol. 2015;28:413–22.

    Article  Google Scholar 

  2. Barsottini OG, Albuquerque MV, Braga-Neto P, Pedroso JL. Adult onset sporadic ataxias: a diagnostic challenge. Arq Neuropsiquiatr. 2014;72:232–40.

    Article  Google Scholar 

  3. Pedroso JL, França MC Jr, Braga-Neto P, D’Abreu A, Saraiva-Pereira ML, Saute JA, et al. Nonmotor and extracerebellar features in Machado-Joseph disease: a review. Mov Disord. 2013;28:1200–8.

    Article  Google Scholar 

  4. Riess O, Rüb U, Pastore A, Bauer P, Schöls L. SCA3: neurological features, pathogenesis and animal models. Cerebellum. 2008;7:125–37.

    Article  CAS  Google Scholar 

  5. Feil K, Strobl R, Schindler A, Krafczyk S, Goldschagg N, Frenzel C, et al. What is behind cerebellar vertigo and dizziness? Cerebellum. 2019;18:320–32.

  6. Zhou Z, Austin GL, Young LEA, Johnston LA, Sun R. Mitochondrial metabolism in major neurological disease. Cells. 2018;7:E229.

    Article  Google Scholar 

  7. Finsterer J, Zarrouk-Mahjoub S. Kearns-Sayre syndrome is genetically and phenotypically heterogeneous. Pediatric Med Chir. 2018;40:193.

  8. Yu N, Zhang YF, Zhang K, Xie Y, Lin XJ, Di Q. MELAS and Kearns-Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions. eNeurologicalSci. 2016;4:15–8.

    Article  Google Scholar 

  9. Rahman S, Copeland WC. POLG-related disorders and their neurological manifestations. Nat Rev Neurol. 2019;15:40–52.

    Article  CAS  Google Scholar 

  10. Quinzii CM, Hirano M. Primary and secondary CoQ (10) deficiencies in humans. Biofactors. 2011;37:361–5.

    Article  CAS  Google Scholar 

  11. Arias M, García-Murias M, Sobrido MJ. Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia». Neurologia. 2017;32:386–93.

    Article  CAS  Google Scholar 

  12. Pedroso JL, Abrahao A, Ishikawa K, Raskin S, de Souza PV, de Rezende Pinto WB, et al. When should we test patients with familial ataxias for SCA31? A misdiagnosed condition outside Japan? J Neurol Sci. 2015;355:206–8.

    Article  Google Scholar 

  13. Pedroso JL, Povoas Barsottini OG, Lin L, Melberg A, Oliveira AS, Mignot E. A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient. Sleep. 2013;36:1257–9,1259A.

    Article  Google Scholar 

  14. Oysu C, Aslan I, Basaran B, Baserer N. The site of the hearing loss in Refsum’s disease. Int J Pediatr Otorhinolaryngol. 2001;61:129–34.

    Article  CAS  Google Scholar 

  15. Lerat J, Jonard L, Loundon N, Christin-Maitre S, Lacombe D, Goizet C, et al. An application of NGS for molecular investigations in Perrault syndrome: study of 14 families and review of the literature. Hum Mutat. 2016;37:1354–62.

    Article  CAS  Google Scholar 

  16. Pedroso JL, Lucato LT, Kok F, Sallum J, Barsottini OG, Oliveira AS. Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome. Arq Neuropsiquiatr. 2015;73:466–8.

    Article  Google Scholar 

  17. Shi M, Zhao G. The EAST syndrome and KCNJ10 mutations. N Engl J Med. 2009;361:630.

    Article  CAS  Google Scholar 

  18. Guissart C, Li X, Leheup B, Drouot N, Montaut-Verient B, Raffo E, et al. Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome. Hum Mol Genet. 2015;24:463–70.

    Article  CAS  Google Scholar 

  19. Carecchio M, Zorzi G, Ragona F, Zibordi F, Nardocci N. ATP1A3-related disorders: an update. Eur J Paediatr Neurol. 2018;22:257–63.

    Article  Google Scholar 

  20. Zeigelboim BS, Teive HAG, Rosa MRD, Malisky JS, Fonseca VR, Marques JM, et al. The importance of central auditory evaluation in Friedreich’s ataxia. Arq Neuropsiquiatr. 2018;76:170–6.

    Article  Google Scholar 

  21. Lin CY, Kuo SH. Cerebellar ataxia and hearing impairment. JAMA Neurol. 2017;74:243–4.

    Article  Google Scholar 

  22. Zhang SQ, Guan YT. Acute bilateral deafness as the first symptom of Wernicke encephalopathy. AJNR Am J Neuroradiol. 2012;33:E44–5.

    Article  Google Scholar 

  23. Nunes J, Gomes BC, Veiga R, Pais RP, Garcia MT. Superficial siderosis of the central nervous system. Neuroradiol J. 2011;24:249–52.

    Article  CAS  Google Scholar 

  24. Nakamagoe K, Iwamoto Y, Yoshida K. Evidence for brainstem structures participating in oculomotor integration. Science. 2000;288:857–9.

    Article  CAS  Google Scholar 

  25. Szmulewicz DJ, Waterston JA, Halmagyi GM, Mossman S, Chancellor AM, McLean CA, et al. Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome. Neurology. 2011;76:1903–10.

    Article  CAS  Google Scholar 

  26. Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, et al. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. Ann N Y Acad Sci. 2011;1233:139–47.

    Article  Google Scholar 

  27. Kirchner H, Kremmyda O, Hufner K, Stephan T, Zingler V, Brandt T, et al. Clinical, electrophysiological, and MRI findings in patients with cerebellar ataxia and a bilaterally pathological head-impulse test. Ann N Y Acad Sci. 2011;1233:127–38.

    Article  Google Scholar 

  28. Szmulewicz DJ, McLean CA, MacDougall HG, Roberts L, Storey E, Halmagyi GM. CANVAS an update: clinical presentation, investigation and management. J Vestib Res. 2014;24:465–74.

    PubMed  Google Scholar 

  29. Migliaccio AA, Halmagyi GM, McGarvie LA, Cremer PD. Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign. Brain. 2004;127:280–93.

    Article  Google Scholar 

  30. Weber KP, MacDougall HG, Halmagyi GM, Curthoys IS. Impulsive testing of semicircular-canal function using video-oculography. Ann N Y Acad Sci. 2009;1164:486–91.

    Article  Google Scholar 

  31. Cortese A, et al. A novel recessive pentanucleotide repeat expansion is a frequent cause of late-onset sensory ataxic neuropathy. Abstract presented at the peripheral nerve society annual meeting. Baltimore, 2018.

  32. Szmulewicz DJ, Merchant SN, Halmagyi GM. Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome: a histopathologic case report. Otol Neurotol. 2011;32:e63–5.

    Article  Google Scholar 

  33. Zeigelboim BS, Jurkiewicz AL, Fukuda Y, Mangabeira-Albernaz PL. Vestibular disorders in degenerative diseases of the central nervous system structures. Pro Fono. 2001;13:263–70.

    Google Scholar 

  34. Matilla-Duenas A. Machado-Joseph disease and other rare spinocerebellar ataxias. Adv Exp Med Biol. 2012;724:172–88.

    Article  CAS  Google Scholar 

  35. Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Autosomal recessive ataxias: 20 types, and counting. Arq Neuropsiquiatr. 2009;67:1143–56.

    Article  Google Scholar 

  36. Zeigelboim BS, Teive HAG, Santos GJB, Severiano MIR, Fonseca VR, Faryniuk JH, et al. Otoneurological findings prevalent in hereditary ataxias. Arq Neuropsiquiatr. 2018;76:131–8.

    Article  Google Scholar 

  37. Rezende TJR, de Paiva JLR, Martinez ARM, Lopes-Cendes I, Pedroso JL, Barsottini OGP, et al. Structural signature of SCA3: from presymptomatic to late disease stages. Ann Neurol. 2018;84:401–8.

    Article  Google Scholar 

  38. Rezende TJR, Martinez ARM, Faber I, Girotto K, Martins MP, de Lima FD, et al. Developmental and neurodegenerative damage in Friedreich Ataxia. Eur J Neurol. 2018;26:483–9.

  39. Ribeiro RS, Pereira MM, Pedroso JL, Braga-Neto P, Barsottini OG, Manzano GM. Cervical and ocular vestibular evoked potentials in Machado-Joseph disease: functional involvement of otolith pathways. J Neurol Sci. 2015;358:294–8.

    Article  Google Scholar 

  40. Buttner N, Geschwind D, Jen JC, Perlman S, Pulst SM, Baloh RW. Oculomotor phenotypes in autosomal dominant ataxias. Arch Neurol. 1998;55:1353–7.

    Article  CAS  Google Scholar 

  41. Zeigelboim BS, Mesti JC, Fonseca VR, Faryniuk JH, Marques JM, Cardoso RC, et al. Otoneurological abnormalities in patients with Friedreich’s Ataxia. Int Arch Otorhinolaryngol. 2017;21:79–85.

    Article  Google Scholar 

Download references

Acknowledgments

Looking forward to hearing from you. Thank you very much! José Luiz Pedroso

Author information

Authors and Affiliations

  1. Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, SP, Brazil

    Orlando G. Barsottini & José Luiz Pedroso

  2. Department of Neurology, Universidade de Campinas, Campinas, SP, Brazil

    Carlos Roberto Martins Jr & Marcondes Cavalcante França Jr

  3. Department of Otorhinolaryngology, Universidade Federal de São Paulo, São Paulo, SP, Brazil

    Pedro Mangabeira Albernaz

Authors
  1. Orlando G. Barsottini
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. José Luiz Pedroso
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Carlos Roberto Martins Jr
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Marcondes Cavalcante França Jr
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Pedro Mangabeira Albernaz
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to José Luiz Pedroso.

Ethics declarations

Conflict of Interest

The authors declare that they have no conflict of interest.

Additional information

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Electronic supplementary material

ESM 1

(PPTX 39 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Barsottini, O.G., Pedroso, J.L., Martins, C.R. et al. Deafness and Vestibulopathy in Cerebellar Diseases: a Practical Approach. Cerebellum 18, 1011–1016 (2019). https://doi.org/10.1007/s12311-019-01042-4

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12311-019-01042-4

Keywords

Search

Navigation