Peer-reviewed veterinary case report
Genetic Variant Linked to Laryngeal Paralysis in Young Great Danes
By Shelton, G Diane et al.·Published in Journal of veterinary internal medicine·2025·Department of Pathology, United States·View original on PubMed →
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Original publication title: A CNTNAP1 Missense Variant Associated With Laryngeal Paralysis and Polyneuropathy in Young Great Dane Dogs.
- Species:
- dog
Plain-English summary
Two young Great Danes were brought in for difficulty breathing and trouble walking. After thorough testing, including nerve biopsies, the vets found that both dogs had a genetic variant linked to laryngeal paralysis and polyneuropathy, which caused their symptoms. Unfortunately, despite the diagnosis, their condition worsened over about six months, leading to the difficult decision to euthanize them. This case highlights the importance of genetic testing for this serious condition in Great Danes.
People also search for: Great Dane breathing problems · laryngeal paralysis in dogs · polyneuropathy treatment in dogs
Abstract
BACKGROUND: Major genetic risk loci and causative mutations classified as LPN1 (Leonberger polyneuropathy type 1), LPN2 (Leonberger polyneuropathy type 2), and LPPN3 (Laryngeal paralysis polyneuropathy type 3) have been identified in Leonberger and Saint Bernard dogs with laryngeal paralysis and polyneuropathy (LPPN). Other large breed dogs, including the Great Dane, can present clinically with LPPN, and this breed previously was identified as a carrier of the LPPN3 variant. To date, homozygosity for this variant has not been identified in Great Dane dogs. INTERVENTIONS: Results of neurological examination, electrodiagnostic testing, and muscle and nerve biopsy samples were consistent with lower motor neuron disease associated with axonal degeneration and large nerve fiber loss in two young Great Dane dogs with gait abnormalities and respiratory difficulty. TaqMan genotyping for the three known LPPN variants confirmed a homozygous missense variant in CNTNAP1, the variant associated with LPPN3. CONCLUSION AND CLINICAL RELEVANCE: A homozygous missense CNTNAP1 variant (p.G937E, XP_548083.3) has been confirmed in young Great Dane dogs that should expand the genetic testing available for LPPN in this breed and aid in the direction of breeding programs. Both dogs were euthanized because of progression of clinical signs approximately 6 months after the original diagnosis.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/40622077/