Article
Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2009
Zafeiriou D I, Lehmann-Horn F, Vargiami E, Teflioudi E, Ververi A, Jurkat-Rott K
Abstract excerpt
Autosomal dominant episodic ataxia type 2 (EA2) results from mutations of the CACNA1A gene. We describe EA2 with unusual features in a father and daughter with a novel CACNA1A mutation coding for Y248C. Both patients showed severe cerebellar atrophy in MRI and clinical signs of progressive spinocerebellar atrophy type 6. Most disabling were the very frequent episodes of ataxia with migraine (with aura in the...
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