Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation

Abstract 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...

Full description

Saved in:
Bibliographic Details
Published in:European journal of paediatric neurology 2009-03, Vol.13 (2), p.191-193
Main Authors: Zafeiriou, D.I, Lehmann-Horn, F, Vargiami, E, Teflioudi, E, Ververi, A, Jurkat-Rott, K
Format: Article
Language:English
Subjects:
Acetazolamide
Adult
CACNA1A gene
Calcium Channels - genetics
Child
Diarrhea
Diarrhea - genetics
Diarrhea - physiopathology
DNA Mutational Analysis
Episodic ataxia type 2
Female
Humans
Hyperhidrosis
Hyperhidrosis - genetics
Hyperhidrosis - physiopathology
Hypothermia - genetics
Hypothermia - physiopathology
Magnetic Resonance Imaging
Male
Migraine
Mutation
Neurology
Pediatrics
Spinocerebellar Ataxias - diagnosis
Spinocerebellar Ataxias - genetics
Spinocerebellar Ataxias - pathology
Spinocerebellar Ataxias - physiopathology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract 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 father and without aura in the daughter) and nystagmus in our patients. Additionally, they suffered from ictal hyperhidrosis with acute hypothermia of the extremities. Lastly, the father presented with interictal chronic diarrhea not associated to a known primary gastrointestinal disorder. Both ictal hyperhidrosis and interictal diarrhea ameliorated upon acetazolamide intake, the typical treatment for EA2. The significance of these findings is discussed and the phenotype correlated to previously reported cases.
ISSN:1090-3798
1532-2130
DOI:10.1016/j.ejpn.2008.02.011