Phenotype: Neonatal cerebellar cortical degeneration in young Beagle puppies is characterized by lack of coordination, broad based stance, loss of balance, and tremors. The condition is neonatal and onset is noticed at about 3 weeks of age as puppies begin to walk. The severity of the condition is variable among individuals but progression of clinical signs is minimal.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal, CCD = Neonatal cerebellar cortical degeneration
Breeds appropriate for testing: Beagle
Explanation of Results:
Dogs with N/N genotype will not have neonatal cerebellar cortical degeneration and cannot transmit this variant to their offspring.
Dogs with N/CCD genotype will not be affected by neonatal cerebellar cortical degeneration, but are carriers. They will transmit this variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% neonatal cerebellar cortical degeneration-affected puppies.
Dogs with CCD/CCD genotype will have neonatal cerebellar cortical degeneration.
At least 15 business days; may be delayed beyond 15 business days if sample requires additional testing, or a new sample is requested.
Inherited neurological degenerative diseases are found in several mammalian species including humans, horses, and dogs. Cerebellar cortical degeneration, also called cerebellar abiotrophy, is a disease characterized by ataxia (lack of coordination), broad based stance, loss of balance, and intentional tremors. In different breeds of dogs, the onset is variable from neonatal to adult. In Beagles the condition is neonatal and onset is noticed at about 3 weeks of age as puppies begin to walk. The severity of the condition is variable among individuals but progression of clinical signs is minimal. Research identified an 8bp deletion in the Beta III Spectrin Gene (SPTBN2) associated with NCCD in Beagles.
NCCD is inherited as a recessive disease, thus both parents must carry the mutation in order to produce an affected puppy. Testing for NCCD in Beagles assists breeders to identify carriers and affected dogs.
Note: This test is specific for the 8bp deletion in the SPTBN2 associated with NCCD in Beagles.
Normal. No copies of the NCCD mutation are present.
Carrier. 1 copy of the NCCD mutation is present. Breedings between carriers are expected to produce 25% affected, 50% carrier, and 25% clear offspring.
Affected. Animal has 2 copies of the NCCD mutation and is expected to have the disease.
Forman, O.P., De Risio, L., Stewart, J., Mellersh, C.S., & Beltran, E. (2012). Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genetics, 13:55. doi: 10.1186/1471-2156-13-55