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Neonatal Cerebellar Cortical Degeneration (Beagle Type) Overview

Neonatal Cerebellar Cortical Degeneration (Beagle Type)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene: SPTBN2

Variant Detected: Deletion

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

Test Overview: Neonatal cerebellar cortical degeneration is an early onset, inherited disease affecting Beagles. Symptoms present around 3 weeks of age when puppies normally develop coordinated movement. In affected dogs there is deterioration of cells in the Cerebellum leading to clinical signs associated with uncoordinated movement and poor balance. Dogs have difficulty walking and often fall over. Other symptoms include jerky movements of the feet and head, staggering, crossing of legs, and a wide-based stance. Tremors of the head and legs are often present and become more severe when the dog is trying to complete a task such as eating. While the disease progression appears to be slow, puppies will not recover and are often euthanized.

Research Citation(s):
BMC Genet. 2012 Jul 10; 13:55. [PubMed: 22781464]
Kent M, Glass E, deLahunta A. Cerebellar cortical abiotrophy in a beagle. J Small Anim Pract. 2000 Jul;41(7):321-3. [PubMed: 10976629]


Associated Breed(s): Beagle,  Mixed Breed,