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Juvenile Brain Disease (JBD) – Juvenile Encephalopathy

Code: H779

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Juvenile Brain Disease (JBD), also known as Juvenile Encephalopathy, is a severe neurological condition.

General information

Juvenile Brain Disease (JBD), also known as Juvenile Encephalopathy, is a severe neurological condition. It causes a lack of coordination in movement, severe brain deterioration and epilepsy. The disease is caused by an autosomal recessive mutation to the pitrilysin metallopeptidase 1 (PITRM1) gene. It is observed in the Parson Russell Terrier and Jack Russel Terrier.

Specifications

Breeds

Jack Russell Terrier, Parson Russell Terrier
Gene

PITRM1
Chromosome

2
Mutation

c.175_180del
Organ

Nervous System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive

Clinical features

The main symptoms typically appear between 6 and 12 weeks of age. Affected puppies suffer from progressively worsening epileptic seizures, with rapid disease progression leading to permanent brain damage and ultimately death. The brain damage can cause lack of coordination (ataxia) and difficulty with movement. Some dogs also may have vision issues due to brain damage affecting visual processing. Most affected puppies do not survive beyond a few months of age due to the severity of the disease.

References

Pubmed ID: 33835239

Year published: 2021

Omia ID: 2324

Omia variant ID:

Turnaround information

  • 15 working days