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Polyneuropathy, Juvenile-Onset Inherited (LPN1)


Relevance Rating: Some evidence for test being meaningful for these breeds


Disease Name
Polyneuropathy, Juvenile-Onset Inherited (LPN1)
Test Type
Genetic Disease/Disorder
"Leonberger dogs may suffer from neuromuscular disease collectively termed Leonberger Polyneuropathy (LPN). LPN affected dogs may suffers from slowly worsening exercise intolerance and develop gait abnormalities, such as an exaggerated hitched step, especially in the hind limbs. There is often wasting of the hind limb muscles as well. Additionally, these dogs may have noisy breathing, a change in their bark, or even difficulty breathing due to involvement of the larynx and laryngeal folds in the throat. Eventually the disease may progress to the point where the dog cannot support its own weight and surgical intervention for laryngeal paralysis may be required. Biopsies of nerve from affected dogs show degradation of the nerve fibers and loss of myelin, the insulating material that normally helps speed messages along nerves. Muscle biopsies show atrophy resulting from nerve loss. Research carried out at the University of Minnesota, the University of Bern, and the University of California, San Diego - Comparative Neuromuscular Laboratory indicates that polyneuropathy within the Leonberger breed is a group of several genetically distinct, but clinically similar diseases. We have mapped two major genetic risk loci and identified the causative mutations that we now term LPN1 and LPN2." [From University of MN]
Details 2
"LPN1 is a polyneuropathy resulting from a 10 base pair deletion within the gene ARHGEF10; dogs homozygous (D/D) for the LPN1 mutation typically develop clinical signs of disease before they reach 3 years of age. At present, LPN1 D/D dogs represent ~11% of all diagnosed cases of Leonberger polyneuropathy; a further 24% of dogs in our research population with a phenotype consistent with or diagnosis of unexplained polyneuropathy have the LPN1-D/N genotype (compared to 12.5% of healthy control dogs). The average age that clinical signs are first noted in these LPN1-D/N dogs, if they develop at all, is 6 years. Due to other causes of neuropathy in Leonbergers, the exact mode of inheritance of the LPN1 form of neuropathy cannot yet be stated for certain." [From University of MN] We have also identified LPN1 homozygous affected Saint Bernards with a biopsy confirmed polyneuropathy and clinical signs consistent with the disease. The LPN1 test can also be used in the Saint Bernard breed to aid in the diagnosis of polyneuropathy and to identify carriers in the breeding population.
Ekenstedt, K.J., Becker, D., Minor, K.M., Shelton, G.D., Patterson, E.E., Bley, T., Oevermann, A., Bilzer, T., Leeb, T., Drögemüller, C., Mickelson, J.R. : An ARHGEF10 Deletion Is Highly Associated with a Juvenile-Onset Inherited Polyneuropathy in Leonberger and Saint Bernard Dogs. PLoS Genet 10:e1004635, 2014. Pubmed reference: 25275565. DOI: 10.1371/journal.pgen.1004635.
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