Peer-reviewed veterinary case report
Newfoundland dog with genetic epilepsy from Lafora disease
By Mari, L et al.·Published in The Journal of small animal practice·2021·Neurology and Neurosurgery Department, Italy·View original on PubMed →
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Original publication title: NHLRC1 homozygous dodecamer expansion in a Newfoundland dog with Lafora disease.
- Species:
- dog
Plain-English summary
A 5-year-old Newfoundland dog was diagnosed with Lafora disease after showing signs of myoclonic epilepsy, which is characterized by sudden muscle jerks. This condition is caused by a genetic mutation in the NHLRC1 gene, and while it has mostly been seen in smaller breeds like Dachshunds, this case marks the first known instance in a Newfoundland. The dog's symptoms were linked to the accumulation of abnormal substances in the brain, leading to the neurological issues. Understanding this condition can help veterinarians better recognize and manage Lafora disease in various dog breeds.
People also search for: Newfoundland dog myoclonic epilepsy · Lafora disease in dogs · genetic epilepsy in dogs
Abstract
Lafora disease is a genetic disease caused, in humans, by mutations in EPM2A and NHLRC1 genes, resulting in accumulation of polyglucosan bodies within neurons. Affected subjects present progressive neurological signs characterised primarily by myoclonic epilepsy. In dogs, Lafora disease has been described mainly in miniature wire-haired Dachshunds, where a dodecamer expansion in NHLRC1 gene has been identified. The same mutation has then been detected in the Basset Hound, Beagle, Chihuahua and Pembroke Welsh Corgi breeds. This is the first case of a Newfoundland dog with myoclonic epilepsy diagnosed with Lafora disease based on confirmed dodecamer expansion in the NHLRC1 gene. Lafora disease is being progressively recognised in different unrelated breeds suggesting a wider distribution in the canine population than previously thought.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/34263924/