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Polyneuropathy and Neuronal Vacuolation (JLPP)

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Test Overview:

Juvenile Laryngeal Paralysis and Polyneuropathy (JLPP) is a neurological disorder which is in Black Russian Terriers and the Rottweiler.The first symptoms of the disease appear in the larynx and throat. In a healthy dog, one of the longest nerves in the body supplies the muscles of the voice box, called larynx. While the dog is barking, air moves over the vocal folds, which start to vibrate. On the other hand, when the dog breathes in, larynx’s muscles pull the vocal folds on the side, so the air can easily enter the lungs.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

RAB3 GTPase activating protein catalytic subunit 1 (RAB3GAP1) on Chromosome 19

Variant Detected:

Nucleotide Deletion c.743delC p.Pro248Leufs4*

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Mhlanga-Mutangadura, T. et al. A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. (2016) J Vet intern Med 30(3);813-818.

Associated Breed(s):

Black Russian Terrier , Mixed Breed, Rottweiler ,

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