The english version of the website is under development. Wherever text appears in Greek, it means it has not been translated yet.

Δημοσίευση

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

TitleEpisodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.
Publication TypeJournal Article
Year of Publication2009
AuthorsZafeiriou, D. I., Lehmann-Horn F., Vargiami E., Teflioudi E., Ververi A., & Jurkat-Rott K.
JournalEur J Paediatr Neurol
Volume13
Issue2
Pagination191-3
Date Published2009 Mar
ISSN1532-2130
KeywordsAdult, Calcium Channels, Child, Diarrhea, DNA Mutational Analysis, Female, Humans, Hyperhidrosis, Hypothermia, Magnetic Resonance Imaging, Male, Mutation, Spinocerebellar Ataxias
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.

DOI10.1016/j.ejpn.2008.02.011
Alternate JournalEur. J. Paediatr. Neurol.
PubMed ID18602318

Contact

Secretariat of the School of Medicine
 

Connect

School of Medicine's presence in social networks
Follow Us or Connect with us.