Spinocerebellar ataxia 8: Variable phenotype and unique pathogenesis☆
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.
aDepartment of Neurology, University of Toronto, Toronto, ON, Canada M5T 2S8
bDepartment of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
Corresponding 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.
☆ The review of this paper was entirely handled by the Co-Editor-in-Chief, Z.K. Wszolek.
ABSTRACT