Neonatal Cerebellar Cortical Degeneration

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Neonatal Cerebellar Cortical Degeneration (NCCD)

Description:

Neonatal Cerebellar Cortical Degeneration (NCCD) is a neurological disease that affects a dog's balance and coordination. The disease damages cells in the cerebellum, the region of the brain that regulates movement. Damage to the cerebellum interferes with a dog's equilibrium, resulting in abnormal movements and a lack of coordination.

 

NCCD is a progressive, degenerative disease. Affected dogs appear normal at birth, but begin to develop signs of the disease within a few weeks. These initial symptoms may include staggering, wide stance and general lack of coordination. Progression of the disease may lead to body tremors and seizure-like episodes. The affected dog may no longer be able to move or eat, and will need to be euthanized. There is unfortunately no cure for this disease.

 

NCCD is a recessive gene, so a dog would need copies of the gene from both parents in order to be affected by the disorder. Carriers of NCCD will not show symptoms but can pass on the mutation to their offspring. It is therefore useful to test for the presence of the mutation before breeding.

Sample Type:

Animal Genetics accepts buccal swab, blood, and dewclaw samples for testing. Sample collection kits are available and can be ordered at test now.

Test Is Relevant To the Following Breeds:

Beagles

Results:

Animal Genetics offers DNA testing for Neonatal Cerebellar Cortical Degeneration (NCCD). The genetic test verifies the presence of the mutation in the SPTBN2 gene and presents results as one of the following:

NCCD/NCCD Affected The dog carries two copies of the variant in SPTBN2 gene and is homozygous for NCCD. The dog is affected and will always pass a copy of the mutated gene to its offspring.
NCCD/n Carrier Both the normal and variant in SPTBN2 gene. Dog is a carrier for NCCD and can pass on a copy of the defective gene to its offspring.
n/n Clear Dog tested negative for the variant in SPTBN2 gene and will not pass on the defective gene to its offspring.

References:

BMC Genet. 2012 Jul 10;13:55. doi: 10.1186/1471-2156-13-55. Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. Forman OP, De Risio L, Stewart J, Mellersh CS, Beltran E.