Lafora disease is a fatal genetic disorder characterised by neurotoxic deposits of malformed insoluble glycogen. In humans it is caused by mutation in the EPM2A or NHLRC1 genes. There is a known mutation in miniature wirehaired dachshunds which has not been documented in other dog breeds, including beagles, in which the disease is relatively commonly reported. This case report describes the causative defect in two affected beagles, namely the same massive expansion as in miniature wirehaired dachshunds of a 12-nucleotide repeat sequence that is unique to the canine NHLRC1 gene. This is the first mutation described in beagles with Lafora disease, and so far the only Lafora disease genetic variant in dogs.

Department of Paediatrics Faculty of Medicine University of Toronto Toronto Ontario M5S Canada

Fitzpatrick Referrals Godalming Surrey GU7 2QQ School of Veterinary Medicine Faculty of Health and Medical Sciences University of Surrey Guildford Surrey GU2 7TE

Program in Genetics and Genome Biology Hospital for Sick Children University of Toronto Toronto Ontario M5G 1X8 Canada

Small Animal Referral Centre Sibra Bratislava 84101 Slovak Republic

Small Animal Referral Centre Sibra Bratislava 84101 Slovak Republic Department of Animal Nutrition Faculty of Veterinary Hygiene and Ecology University of Veterinary and Pharmaceutical Sciences Brno Brno 612 42 Czech Republic

Tygerberg Animal Hospital Cape Town 7550 South Africa

Veterinary Clinic ELPA Trencin 91105 Slovak Republic

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