Polyneuropathy 2 (LPN2) - Leonberger

Polyneuropathy (PN) is a progressive neurological disease with typically signs like hypotonia, muscle atrophy secondary to denervation and abnormal motor signs. Early signs are laryngeal paralysis, inspiratory stridor and dyspnoea and are considered as strong indicator of neuropathy that may later progress. Clinical signs in Leonberger vary greatly and have different age of onset from <1 year to 10 years of age. A mutation in GJA9 gene was identified which represents another form of PN designated Leonberger polyneurophaty 2 (LPN2). Mutations associated with LPN1 and LPN2 represent only 1/3 of all cases of PN in Leonberger.

Inheritance: autosomal dominant

Mutation: GJA9 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.