Description: Juvenile encephalopathy (JBD) or previous known as Progressive epilepsy with mitochondrial dysfunction and neurodegeneration is severe neurodegenerative disorder affects Parson Russell Terriers and is characterized by early-onset epilepsy and rapid progression to fatal neurodegeneration. Symptoms begin between 6–12 weeks of age with epileptic seizures, facial twitching, rhythmic blinking, salivation, and anxiety. Seizures rapidly worsen, leading to status epilepticus and death or euthanasia. The disease is caused by an in-frame 6-bp deletion in the PITRM1 gene, which impacts mitochondrial protease function, leading to mitochondrial dysfunction and accumulation of amyloid-beta protein in neurons.
Inheritance: autosomal recessive
Mutation: c.175_180del in PITRM1 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Jack Russell Terrier, Parson Russell Terrier
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