Cerebellar Purkinje cell degeneration
Cerebellar Purkinje cell degeneration is a rare autosomal-recessive genetic disease of dogs affecting only the Purkinje cells of the cerebellum.
The disease, which is a form of canine cerebellar abiotrophy, is caused by a missense mutation in the SEL1L gene, a component of the endoplasmic reticulum–associated protein degradation gene machinery.
Affected pups (often around 3 months of age) usually present with early-onset progressive cerebellar ataxia characterized by an inability to walk and slowed growth, intention tremors, jerky limb movements and difficulty crawling, suckling and maintaining the body in a specific position. Puppies with this disability, however, seem to be aware of their surroundings and respond when stimulated.
Cerebellar Purkinje cell degeneration can occur in different forms. In the neonatal form, clinical signs of dysfunction start at birth or a few days later. In the postnatal form, reported in the Old English Sheepdog, the symptoms start a few weeks to months after birth and slowly progresses over time.
A syndrome of cerebellar Purkinje's cell degeneration and coat color dilution has been diagnosed in a family of Rhodesian Ridgeback dogs. Epilepsy was reported in several litters of Lagotto Romagnolo dogs which was associated with loss of Purkinje cells.
Many affected dogs remain with mild incoordination their entire lives, and live out a normal life span. Other animals progress to the point where they can not walk without assistance.
Histological examination of brain tissues usually shows a cerebellum-restricted neurodegeneration with marked loss of Purkinje cells in the cerebellar cortex with secondary changes in other cortical layers.
A differential diagnosis would include hydrocephalus, Chiari malformations, arachnoid cysts, cerebellar hypoplasia, Dandy-Walker syndrome, cerebellar abiotrophy, neuroaxonal dystrophy and intrauterine canine parvovirus infection, and these should be considered in any differential diagnosis.
There is no effective treatment for this condition and many pups have to be euthanized due to rapidly worsening symptoms.
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