Journal of Neurology

, Volume 256, Issue 1, pp 78–82 | Cite as

Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6

  • Patrick Yu-Wai-Man
  • Grainne Gorman
  • David E. Bateman
  • R. John Leigh
  • Patrick F. Chinnery


Spinocerebellar ataxia type 6 (SCA6) is a calcium channelopathy due to a pathological CAG repeat expansion in CACNL1A4. Patients frequently describe paroxysmal vertigo early in the disease course, but it is not clear whether this is central or labyrinthine in origin. To address this issue we studied 21 SCA6 patients. Symptoms of vertigo were defined using a structured questionnaire. Signs were recorded during a standardised bed-side vestibular examination that included systematic positional testing with Frenzel goggles.

Brief, recurrent attacks of vertigo occurred in 13 patients, usually preceding the onset of ataxia. Nystagmus was observed behind Frenzel goggles in 14 patients, and was induced either during positional testing, or head shaking in 20 patients. Only one patient had findings typical of benign paroxysmal positional vertigo (BPPV). Combined downbeat and horizontal gaze-evoked nystagmus (“side-pocket”) was the most common form, occurring most commonly in supine and head-hanging positions, and following horizontal head-shaking. Nystagmus beating away from the ground (apogeotropic) occurred in 9 patients as they lay on their side.

In conclusion, vertigo and abnormalities on bedside vestibular examination are common in SCA6, with forms of nystagmus typical of cerebellar, rather than labyrinthine, disease. These findings demonstrate phenotypic overlap between SCA6 and episodic ataxia type 2, which are both due to mutations in CACNL1A4.

Key words

spinocerebellar ataxia stereopsis nystagmus ocular motility vertigo vestibular 


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  1. 1.
    Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltagedependent calcium channel. Nat Genet 15:62–69PubMedCrossRefGoogle Scholar
  2. 2.
    Zee DS, Yee RD, Cogan DG, Robinson DA, Engel WK (1976) Ocular motor abnormalities in hereditary cerebellar ataxia. Brain 99:207–234PubMedCrossRefGoogle Scholar
  3. 3.
    Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, Zee DS, Clark HB, Anderson JH (1997) Spinocerebellar ataxia type 6: gazeevoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol 42:933– 950PubMedCrossRefGoogle Scholar
  4. 4.
    Leigh RJ, Zee DS (2006) The Neurology of Eye Movements (Book/DVD). Oxford University Press, New YorkGoogle Scholar
  5. 5.
    Yabe I, Sasaki H, Takeichi N, Takei A, Hamada T, Fukushima K, Tashiro K (2003) Positional vertigo and macroscopic downbeat positioning nystagmus in spinocerebellar ataxia type 6 (SCA6). J Neurol 250:440–443PubMedCrossRefGoogle Scholar
  6. 6.
    Yabe I, Sasaki H, Yamashita I, et al. (1998) Initial symptoms and mode of neurological progression in spinocerebellar ataxia type 6 (SCA6). Rinsho Shinkeigaku – Clinical Neurology 38:489–494PubMedGoogle Scholar
  7. 7.
    Takahashi H, Ishikawa K, Tsutsumi T, Fujigasaki H, Kawata A, Okiyama R, Fujita T, Yoshizawa K, Yamaguchi S, Tomiyasu H, Yoshii F, Mitani K, Shimizu N, Yamazaki M, Miyamoto T, Orimo T, Shoji S, Kitamura K, Mizusawa H (2004) A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6. J Hum Genet 49:256–264PubMedCrossRefGoogle Scholar
  8. 8.
    Craig K, Keers SM, Archibald K, Curtis A, Chinnery PF (2004) Molecular epidemiology of spinocerebellar ataxia type 6. Ann Neurol 55:752–755PubMedCrossRefGoogle Scholar
  9. 9.
    Brandt T, Dieterich M, Strupp M (2005) Vertigo and Dizziness: Common Complaints. Springer, New YorkGoogle Scholar
  10. 10.
    Garnham L, Sloper JJ (2006) Effect of age on adult stereoacuity as measured by different types of stereotest. Br J Ophthalmol 90:91–95PubMedCrossRefGoogle Scholar
  11. 11.
    Walker MF, Zee DS (2005) Cerebellar disease alters the axis of the high-acceleration vestibuloocular reflex. J Neurophysiol 94:3417–3429PubMedCrossRefGoogle Scholar
  12. 12.
    Marti S, Palla A, Straumann D (2002) Gravity dependence of ocular drift in patients with cerebellar downbeat nystagmus. Ann Neurol 52:712–721PubMedCrossRefGoogle Scholar
  13. 13.
    Pierrot-Deseilligny C, Tilikete C (2008) New insights into the upward vestibulo- ocular pathways in human brainstem. Progress in Brain Research 171:509–518PubMedCrossRefGoogle Scholar
  14. 14.
    Levy NS, Glick EB (1974) Stereoscopic perception and Snellen visual acuity. Am J Ophthalmol 78:722–724PubMedGoogle Scholar
  15. 15.
    Maschke M, Gomez CM, Tuite PJ, Pickett K, Konczak J (2006) Depth perception in cerebellar and basal ganglia disease. Exp Brain Res 175:165–176PubMedCrossRefGoogle Scholar
  16. 16.
    Brandt T, Strupp M (1997) Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo). Audiol Neurootol 2:373–383PubMedCrossRefGoogle Scholar
  17. 17.
    Geschwind DH, Perlman S, Figueroa KP, Karrim J, Baloh RW, Pulst SM (1997) Spinocerebellar ataxia type 6. Frequency of the mutation and genotype- phenotype correlations. Neurology 49:1247–1251PubMedGoogle Scholar
  18. 18.
    Jen J, Kim GW, Baloh RW (2004) Clinical spectrum of episodic ataxia type 2. Neurology 62:17–22PubMedGoogle Scholar
  19. 19.
    Jen JC, Yue Q, Karrim J, Nelson SF, Baloh RW (1998) Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia. J Neurol Neurosurg Psychiatry 65:565–568PubMedCrossRefGoogle Scholar
  20. 20.
    Marti S, Straumann D, Buttner U, Glasauer S (2008) A model-based theory on the origin of downbeat nystagmus. Exp Brain Res 188:613–631PubMedCrossRefGoogle Scholar

Copyright information

© Steinkopff-Verlag 2009

Authors and Affiliations

  • Patrick Yu-Wai-Man
    • 1
    • 4
  • Grainne Gorman
    • 1
  • David E. Bateman
    • 2
  • R. John Leigh
    • 3
  • Patrick F. Chinnery
    • 1
  1. 1.Mitochondrial Research Group, School of Neurology, Neurobiology and PsychiatryThe Medical School, Newcastle UniversityNewcastle upon TyneUK
  2. 2.Dept. of NeurologyNorth Cumbria Acute NHS TrustCarlisleUK
  3. 3.Dept. of NeurologyVeterans Affairs Medical Center and Case Western Reserve UniversityClevelandUSA
  4. 4.Dept. of OphthalmologyRoyal Victoria InfirmaryNewcastle upon TyneUK

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