Parkinsonism & Related Disorders
Volume 15, Issue 9 , Pages 621-626, 5 November 2009

Spinocerebellar ataxia 8: Variable phenotype and unique pathogenesis☆

  • Amitabh Gupta

      Affiliations

    • Department of Neurology, University of Toronto, Toronto, ON, Canada M5T 2S8
    • ,
  • Joseph Jankovic

      Affiliations

    • Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
    • Corresponding Author InformationCorresponding author. Parkinson's Disease Center, and Movement Disorders Clinic, Baylor College of Medicine, Department of Neurology, the Smith Tower, Suite 1801, 6550 Fannin, Houston, Texas 77030, US. Tel.: +1 713 798 5998, appointments: +1 713 798 7438; fax: +1 713 798 6808.
    web address

Received 9 January 2009; received in revised form 1 June 2009; accepted 2 June 2009.

Abstract 

Spinocerebellar ataxia 8 (SCA8), a triplet repeat expansion disorder, is genetically distinct from the other inherited ataxias, but its unusually variable phenotype can make its diagnosis difficult. In this review we describe 3 new cases of genetically verified SCA8 to highlight the broad clinical spectrum of symptoms observed with this disorder and to draw attention to the features of myoclonus and migraine headaches, which in the context of cerebellar ataxia warrants the clinician to consider SCA8 as a potential diagnosis. We also address the controversy surrounding the genetic testing approach for diagnosing SCA8. Finally, we evaluate the evidence that SCA8 may affect calcium channel function and that the presentation of episodic ataxia and migraines suggests a clinical and pathogenic overlap of SCA8 with the channelopathies.

Keywords: SCA8, Ataxia, Myoclonus, Migraine, Channelopathy

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☆ The review of this paper was entirely handled by the Co-Editor-in-Chief, Z.K. Wszolek.

PII: S1353-8020(09)00143-6

doi:10.1016/j.parkreldis.2009.06.001

Parkinsonism & Related Disorders
Volume 15, Issue 9 , Pages 621-626, 5 November 2009

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