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Spinocerebellar ataxia 8: Variable phenotype and unique pathogenesis
Parkinsonism & Related Disorders, 10/29/09
Gupta A et al. – In this review the authors 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. The authors also address the controversy surrounding the genetic testing approach for diagnosing SCA8. Finally, the authors 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.
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