Description: LAFORA epilepsy is a neurodegenerative disease characterized by the presence of inclusion bodies, known as “Lafora bodies” in the cytoplasm of cells due to impaired glycogen metabolism. There is an accumulation of these bodies in the brain, which often leads to epileptic seizures. The disease disrupts the development of cortical neurons in the brain. Thus, characteristic manifestations of the disease include myoclonus, panic attacks, impaired vision, aggression towards humans or dogs, and incontinence. Later symptoms include dementia, blindness and deafness.
The causal mutation is located in the NHLRC1 gene (NHL repeat containing E3 ubiquitin protein ligase 1) and is thus an expansion of a multiple repeat of a sequence consisting of 12 nucleotides. Standard alleles have 1-3 repeats. Increasing the number of repetitions increases the risk of disease. The mutant allele usually has 19-26 repeats of 12-mer . NHLRC1 protects tissues from carbohydrate accumulation.
Inheritance: autosomal recessive
Mutation: 12-bp repeat expansion in NHLRC1 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Baset, Beagle, Chihuahua, Chinese Crested dog, Dachshund, Griffon Bruxellois, French Bulldog, Newfoundland, Poodle, Yorkshire terrier, Welsh Corgi
Notes:
