Juvenile brain disease / juvenile encephalopathy (PITRM1-related) - Russell Terriers

What does this test examine?

This genetic test analyses the PITRM1 variant c.175_180del in the Parson Russell Terrier en Jack Russell Terrier. The condition is known as JBD / juvenile brain disease, also called JBD, juvenile brain disease, juvenile encephalopathy and PITRM1-related neurological disease.

JBD is an early-onset neurological disorder in which puppies or young dogs can develop serious brain and nervous-system signs. The condition is also described as juvenile encephalopathy.

Practical value of this test

• The result helps breeders identify carriers and dogs with a relevant risk genotype.
• It supports breeding choices that strongly reduce the chance of affected puppies.
• For owners and veterinarians, the result adds clear genetic context for early signs, breed screening and breeding or purchase decisions.

Who benefits from this test?

This analysis is valuable for breeders who want to know inherited risks before planning a mating, for owners who want clarity about their dog’s genetic status and for veterinarians who want genetic context for early or breed-associated signs. The test supports selection without unnecessarily excluding good breeding animals: a carrier can often still be used responsibly when paired with a clear-tested partner.

• helps reveal hidden carriers before puppies are born;
• makes pedigree and line planning more concrete because each dog has its own result;
• reduces the chance of unexpected affected puppies when results are used consistently;
• gives buyers and puppy owners clearer information about inherited health within the line.

Inheritance and result meaning

The condition is inherited as an autosomal recessive trait: two copies cause disease, while one copy means carrier status. The test helps breeders find hidden carriers before two carriers are mated. This allows genetic diversity to be maintained while greatly reducing the risk of affected puppies.