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

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Caractéristiques

Breeds

,

Gene

Organ

specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Mode of Inheritance

Chromosome

Year Published

Informations générales

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.

Caractéristiques cliniques

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.

Additional Information

Références

Pubmed ID: 33835239

Omia ID: 2324

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