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Polyneuropathy and Neuronal Vacuolation (JLPP) Overview

Polyneuropathy and Neuronal Vacuolation (JLPP)
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Category: Musculoskeletal (Associated with Bones and Muscles)

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

Variant Detected: Nucleotide Deletion c.743delC p.Pro248Leufs4*

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

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.

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): Rottweiler ,  Mixed Breed,  Black Russian Terrier ,