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Cerebellar Cortical Degeneration Overview

Cerebellar Cortical Degeneration
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Category: Neurologic (Associated with the Brain, Spinal and Nerves)

Gene: SPTBN2

Variant Detected: 8 base pair deletion TCAAGGCA

Severity: Scale 5 is the most extreme in severity. It comprises rapidly fatal diseases that may also cause a significant decrease in the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: : Neonatal cerebellar cortical degeneration is a neurodegenerative disease described in several canine breeds including the Beagle. Affected Beagles are unable to ambulate normally from the onset of walking and the main pathological findings include Purkinje cell loss with swollen dendritic processes. Previous reports suggest an autosomal recessive mode of inheritance.

Research Citation(s): BMC Genet. 2012 Jul 10;13(1):55

Associated Breed(s): Hungarian Vizsla,  Mixed Breed,