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Jen, J.C. et al.

Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia.

The SCA6 mutation, a small expansion of a CAG repeat in a calcium channel gene CACNA1A, was identified in three pedigrees. Point mutations in other parts of the gene CACNA1A were excluded and new clinical features of SCA6 reported--namely, central positional nystagmus and episodic ataxia responsive to acetazolamide. The three allelic disorders, episodic ataxia type 2, familial hemiplegic migraine, and SCA6, have overlapping clinical features.[1]

References

Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia. Jen, J.C., Yue, Q., Karrim, J., Nelson, S.F., Baloh, R.W. J. Neurol. Neurosurg. Psychiatr. (1998) [Pubmed]

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