news
Published: 10 October 2017

Canine research to benefit children with severe epilepsy

New hope is being given to children who suffer from a rare and severe form of epilepsy, thanks to unique research carried out by the University’s School of Veterinary Medicine and Fitzpatrick Referrals in Surrey.

The research has identified the progression of Lafora disease, a devastating form of epilepsy which affects up to 50 young children worldwide. Lafora’s disease also affects dogs and the examination of affected canines will help develop effective treatment which can be used to treat children with the illness.

Working with eminent specialists in the human form of Lafora at The Hospital for Sick Children in Toronto, researchers surveyed the owners of 27 miniature wirehaired dachshund, a breed with a high prevalence of the illness, over the course of three years to uncover the clinical signs and physical advancement of the disease. The insight will help shape the treatment available for this rare disease.

The Lafora illness is a fatal form of epilepsy caused by gene mutation, leading to abnormal levels of glycogen in the body. These abnormal levels of glycogen cause children and dogs to suffer progressive seizures, dementia and loss of the ability to walk.

Researchers discovered that the most common clinical sign of Lafora is reflex and spontaneous muscle contractions, uncontrollable jerks and generalised seizures. Other common signs include ‘focal seizures’, ‘jaw smacking,’ ‘fly catching’, ‘panic attacks’ and ‘aggression.’

Dr Clare Rusbridge, Reader in Veterinary Neurology at Surrey and Chief Neurologist at Fitzpatrick Referrals, said: “Lafora is a fatal disease that causes unbearable suffering for dogs and, in rare cases, young children.

“Due to its rarity, little is known about the onset of this illness but what we have discovered, with the help of dog owners, is the clinical sign of Lafora helping to lead to quicker diagnosis. The more we learn about Lafora, the better chance we have of treating it effectively.”

The longstanding relationship between Dr Rusbridge and the Hospital for Sick Children in Toronto forged the ground-breaking collaboration between human and veterinary medicine, and led to the discovery of the canine Lafora genetic mutation in 2005.

Armed with this knowledge, campaigning by the Wirehaired Dachshund Club and Dachshund Breed Council has increased awareness about and testing for the disease in breeding animals. In the space of just five years, the proportion of litters bred with a risk of Lafora-affected puppies has been reduced from 55% to under 5%.