Publication Date:
2005-01-08
Description:
Epilepsy afflicts 1% of humans and 5% of dogs. We report a canine epilepsy mutation and evidence for the existence of repeat-expansion disease outside humans. A canid-specific unstable dodecamer repeat in the Epm2b (Nhlrc1) gene recurrently expands, causing a fatal epilepsy and contributing to the high incidence of canine epilepsy. Tracing the repeat origins revealed two successive events, starting 50 million years ago, unique to canid evolution. A genetic test, presented here, will allow carrier and presymptomatic diagnosis and disease eradication. Clinicopathologic characterization establishes affected animals as a model for Lafora disease, the most severe teenage-onset human epilepsy.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lohi, Hannes -- Young, Edwin J -- Fitzmaurice, Susan N -- Rusbridge, Clare -- Chan, Elayne M -- Vervoort, Mike -- Turnbull, Julie -- Zhao, Xiao-Chu -- Ianzano, Leonarda -- Paterson, Andrew D -- Sutter, Nathan B -- Ostrander, Elaine A -- Andre, Catherine -- Shelton, G Diane -- Ackerley, Cameron A -- Scherer, Stephen W -- Minassian, Berge A -- New York, N.Y. -- Science. 2005 Jan 7;307(5706):81.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15637270" target="_blank"〉PubMed〈/a〉
Keywords:
Alleles
;
Animals
;
Chromosome Mapping
;
Cloning, Molecular
;
*DNA Repeat Expansion
;
Dog Diseases/*genetics
;
Dogs/*genetics
;
Female
;
Lafora Disease/genetics/*veterinary
;
Male
;
Muscle, Skeletal/metabolism
;
Pedigree
;
Polymerase Chain Reaction
;
RNA, Messenger/genetics/metabolism
;
Sequence Analysis, DNA
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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