Episodic Ataxia type 2

Genetics:

Autosomal dominant
Ca++ CANA1A chr. 19p13.1

Clinical features:

2nd decade. Paroxysmal cerebellar ataxia
Lasts hours: Vertigo, diplopia, nystagmus
Progressive signs
Associated with absence seizures in some

Findings on investigations:

MRI: vermian atrophy

Treatment:

Responds to acetazolamide

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