Send to

Choose Destination
Canine Genet Epidemiol. 2018 Mar 27;5:2. doi: 10.1186/s40575-018-0058-8. eCollection 2018.

Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom.

Author information

1Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8 Canada.
Dachshund Breed Council, Wrington, North Somerset, UK.
Fitzpatrick Referrals Orthopedics and Neurology, Halfway Lane, Eashing, Godalming, Surrey UK.
5School of Veterinary Medicine, Faculty of Health & Medical Sciences, University of Surrey, Guildford, Surrey UK.
2Department of Pediatrics, University of Texas Southwestern, 5323 Harry Blvd, Dallas, TX 75390-9063 USA.



Canine DNA-testing has become an important tool in purebred dog breeding and many breeders use genetic testing results when planning their breeding strategies. In addition, information obtained from testing of hundreds dogs in one breed gives valuable information about the breed-wide genotype frequency of disease associated allele. Lafora disease is a late onset, recessively inherited genetic disease which is diagnosed in Miniature Wirehaired Dachshunds (MWHD). It is one of the most severe forms of canine epilepsy leading to neurodegeneration and, frequently euthanasia within a few years of diagnosis. Canine Lafora disease is caused by a dodecamer repeat expansion mutation in the NHLRC1 gene and a DNA test is available to identify homozygous dogs at risk, carriers and dogs free of the mutation.


Blood samples were collected from 733 MWHDs worldwide, mostly of UK origin, for canine Lafora disease testing. Among the tested MWHD population 7.0% were homozygous for the mutation and at risk for Lafora disease. In addition, 234 dogs were heterozygous, indicating a carrier frequency of 31.9% in the tested population. Among the tested MWHDs, the mutant allele frequency was 0.2. In addition, data from the tested dogs over 6 years (2012-2017) indicated that the frequency of the homozygous and carrier dogs has decreased from 10.4% to 2.7% and 41.5% to 25.7%, respectively among MWHDs tested. As a consequence, the frequency of dogs free of the mutation has increased from 48.1% to 71.6%.


This study provides valuable data for the MWHD community and shows that the DNA test is a useful tool for the breeders to prevent occurrence of Lafora disease in MWHDs. DNA testing has, over 6 years, helped to decrease the frequency of carriers and dogs at risk. Additionally, the DNA test can continue to be used to slowly eradicate the disease-causing mutation in the breed. However, this should be done carefully, over time, to avoid further compromising the genetic diversity of the breed. The DNA test also provides a diagnostic tool for veterinarians if they are presented with a dog that shows clinical signs associated with canine Lafora disease.


Canine polyglucosan storage disease; DNA testing; Genetic diversity; Miniature Wirehaired Dachshund; Progressive myoclonic epilepsy

Conflict of interest statement

All samples used in this study were collected from pet dogs with owner permission for the purpose of diagnostic genetic testing for canine Lafora disease at the Hospital for Sick Children, Toronto, Canada. No institutional animal use and care committee approval was required.Not applicableSA, PW, TW and BM are employed by the Hospital for Sick Children, University of Toronto. CR is employed by Fitzpatrick Referrals Ltd., Surrey, GU7 Q22 and the University of Surrey. The University of Surrey, The University of Toronto and Fitzpatrick Referrals Ltd. did not play a role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript and only provided financial support in the form of authors’ salaries and/or research materials. IS, SH and GK and are members of the Lafora disease Subcommittee which is part of the Dachshund Breed Council affiliated with the UK Kennel Club. The Dachshund Breed Council represents the interests of sixteen UK Dachshund Breed Clubs and appoints Health and Welfare Sub-committees to develop policies and coordinate plans for Dachshund breed health improvement. The Lafora disease subcommittee instigated data collection but did not play a role in analysis, decision to publish, preparation of the manuscript or provide financial support other than coordinate fundraising to part subsidizing the cost of genetic testing. None of the authors have personal or financial relationships with other people or organizations that might inappropriately influence or bias the content of the paper. There are no patents, products in development, or marketed products to declare.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplemental Content

Full text links

Icon for BioMed Central Icon for PubMed Central
Loading ...
Support Center