Leading science and care for animals

Published: 04/12/2017 16:13:43

GENETIC CAUSE OF HEREDITARY CEREBELLAR ATAXIA IN NORWEGIAN BUHUNDS IDENTIFIED 

 

In order to protect this small breed from the threat of affected puppies, DNA testing can now be used to promptly eliminate this neurological disease

We are pleased to announce that we have discovered a genetic mutation for cerebellar ataxia in Norwegian Buhunds. This disease affects dogs as young as 12 weeks of age, with uncoordinated movement and head tremors. There is currently no effective treatment and the disease is progressive, worsening over time. Affected animals are often euthanised on welfare grounds. 

The causative mutation was identified by geneticists at the Kennel Club Genetics Centre at the Animal Health Trust (AHT), in collaboration with the AHT’s Neurology unit. A DNA test is now available, here, to help breeders identify carriers and prevent the birth of affected puppies. 

Hereditary cerebellar ataxia appears recessive in Norwegian Buhunds, which means that two copies of the mutation need to be inherited by a dog (one from each parent) for it to be clinically affected. If two carriers are mated there is a chance that affected puppies will be produced, and DNA testing is the best way to prevent this from happening. 

 

Margaret Deuchar, Norwegian Buhund Breed Health Coordinator, said: “The Norwegian Buhund Club of [the] UK is extremely grateful to the AHT for carrying out this research project into cerebellar ataxia in our breed.

“Although we have not been aware of any clinically affected puppies in the last few years the research has confirmed that we do still have carrier dogs in the present population, meaning an affected puppy could arise at any time. With the DNA test now available we can prevent another puppy suffering this horrendous condition and hopefully over a number of years progressively reduce the prevalence of the mutant recessive gene - without making our numerically small gene pool even smaller, and thus putting the breed at increased risk of different genetic diseases.”

 

Dr Cathryn Mellersh, Head of Canine Genetics at the AHT, said: “The mutation for this inherited disease in the Norwegian Buhund has been identified using whole genome sequencing, and the study was facilitated by the genome bank that we are developing as part of our Give a Dog a Genome project. Without the Give a Dog a Genome data it would have taken us much longer to track down the causal mutation and develop this test.  We’re very happy to be able to help this breed swiftly eliminate any potential carriers, and therefore affected dogs with cerebellar ataxia, and to demonstrate that whole genome sequencing really works as a method of speeding up mutation identification and developing new DNA tests.”

 

Caroline Kisko, Kennel Club Secretary, said: “It is very good news for the breed that the genetic mutation for cerebellar ataxia has been identified.  We would encourage breeders of Norwegian Buhunds to utilise this DNA test, as identifying possible carriers in the breed will help to prevent any more puppies being born with this horrible disease.

 

“The Kennel Club Genetics Centre at the Animal Health Trust is making strides in genetic research, which enables breeders to make sensible breeding decisions and will go a long way in helping to protect the future of dog health.”

 

About the research
The AHT’s research tested 146 Norwegian Buhunds for this mutation; no signs of cerebellar ataxia had been reported in these dogs. This 146 dogs consisted of three sets of dogs: 70 UK dogs for which samples were collected between 2008 and 2015 (born 1994 – 2013), 36 UK dogs collected specifically for this research in 2017 (born 2008 – 2016), and 40 dogs from Finland (born 1998 – 2012).

Whilst the UK set of dogs for which samples were collected between 2008 and 2015 included significantly more carriers than the other two sets, carriers of the mutation were identified in the contemporary UK set and the set from Finland. This shows that this mutation is still present within the Norwegian Buhund population. All Norwegian Buhunds affected by cerebellar ataxia that have been tested as part of this research have two copies of the mutation. None of the 146 unaffected dogs included in the study had two copies of the mutation.

 

If you sent a DNA sample from your Norwegian Buhund to the AHT and it was used in the cerebellar ataxia research you can now find out, free of charge, if your dog carries the mutation. Please go to http://www.aht.org.uk/caninegeneticssuccess to download and return a request for your free result.

 

To buy a DNA test, please go to www.ahtdnatesting.co.uk