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H341

Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination.

Working days 10

Specifiche

Breeds

Gene

Organ

specimen

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

Chromosome

Also known as

Year Published

Informazioni generali

Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination. This variant of the disease, known as Spongy Degeneration with Cerebellar Ataxia (SDCA2), occurs in the Belgian Shepherd. It is caused by a recessive mutation to the gene ATP1B2.

Caratteristiche cliniche

Affected puppies begin presenting with ataxic gait (a loss of coordination while walking) at about four weeks of age. Further symptoms can include pacing, circling, central blindness and seizures. The disease progresses rapidly, and euthanasia on humane grounds is typically necessary within weeks.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 28620085

Omia ID: 2110

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