Leonberger Polyneuropathy 1 (LPN1) is a polyneuropathy condition (PN) that is associated with a mutation in ARHGEF10 gene. A loss of function of the gene may lead to the loss of proper nerve signalling. Polyneuropathy can display a wide range of age of onset and may appear due to the mutations in other genes (GJA9, NDRG1) with a different mode of inheritance. Clinical signs include generalized weakness, hypotonia, muscle atrophy secondary to denervation and abnormal motor signs. A higher number of male Leonbergers are affected, probably due to their size and correspondingly longer peripheral nerves or due to endogenous steroids.
Inheritance: autosomal recessive - read more
Mutation: ARHGEF10 gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.