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Dog hereditary diseases

DSD153
Juvenile Brain disease / Juvenile Encephalopathy (epilepsy)
JBD
10
Dogs
Hereditary diseases
"Juvenile encephalopathy (Juvenile Brain Disease, JBD) is a hereditary, rapidly progressing brain disease. The first symptoms are observed at 6-12 weeks, the dog has epileptic seizures, leading to the development of epileptic status and, eventually, death. The disease is associated with the c.175_180del mutation, deletion (loss) of 6 nucleotide pairs in the PITRM1 gene. This gene encodes a protein of the same name – pitrilysin-metallopeptidase 1 (PITRM1), which is involved in the cleavage of beta-amyloids, "waste" formed during the normal life of the cell. When the metabolism of these particles is disrupted, they accumulate in brain cells, which causes degenerative disorders. In particular, Alzheimer's disease in humans is associated with the accumulation of beta-amyloids in the tissue fluid of the brain. The frequency of mutation occurrence in the population of Parson-Russell Terriers is 18%. The nature of the inheritance of the disease is autosomal recessive. The disease develops only if both copies of the gene contain a mutation. In heterozygotes for this mutation, clinical signs of the disease are not detected even after 8 years of life. Symptoms: The disease begins with epileptic seizures at the age of 6-12 weeks. The first symptoms manifest themselves in the form of twitching of the facial muscles and head, rhythmic blinking, swallowing and anxious behavior. Further, epileptic seizures are observed, progressing to epileptic status within a few days, which leads to death or euthanasia. Histopathological changes during autopsy are limited to the brain. Neuron degeneration and necrosis are observed, diffusely affecting gray matter throughout the brain with extensive intra-neuronal accumulation of mitochondria and accumulation of beta-amyloid."
PITRM1
  • Jack Russell Terrier
  • Parson russell terrier

Individual breeds
Juvenile encephalopathy in Parson-Russell Terriers is a severe brain disease that begins to develop at the age of 6-12 weeks. Sick dogs suffer from epileptic seizures. The disease progresses rapidly, causing irreversible brain damage, leading to death.