Juvenile Laryngeal Paralysis and Polyneuropathy (JLPP)

Juvenile laryngeal paralysis and polyneuropathy is an autosomal recessive genetic disease that affects Rottweiler and Black Russian Terrier breeds.  The affected dogs have breathing problems leading to laryngeal paralysis. The other symptoms may be ataxia, distal weakness and reduced spinal reflexes. In some affected dogs, the eyes were abnormally small and had cataracts. Due to atrophy of the laryngeal muscles the barking is changed. The first symptoms appear around 3 months of age. Due to the progression of the symptoms the affected dogs must be in most cases euthanized by 6 months of age.

The JLPP is caused by mutation in the RAB3GAP1 gene: c.743delC.

Mutation that causes JLPP is inherited as an autosomal recessive trait. That means the disease affects dogs with P/P (positive / positive) genotype only. The dogs with P/N (positive /negative) genotype are clinically without any symptom. They are genetically considered carriers of the disease (heterozygotes). In offspring of two heterozygous animals following genotype distribution can be expected: 25 % N/N (healthy non-carriers), 25 % P/P (affected), and 50 % N/P (healthy carriers).

.

Rferences:

Mhlanga‐Mutangadura, T., et al. "A Homozygous RAB3GAP1: c. 743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration." Journal of Veterinary Internal Medicine 30.3 (2016): 813-818.

Mhlanga-Mutangadura, Tendai, et al. "A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs." Neurobiology of disease 86 (2016): 75-85.