Neonatal Cerebellar Cortical Degeneration (NCCD Dog)
Neonatal cerebellar cortical degeneration (NCCD) is a degenerative nerve disease in which an early, progressive loss of nerve cells occurs. Affected dogs show balance disorders and uncoordinated movements and usually have to be euthanised at puppy age.
The disease occurs in the Beagle. The inheritance is autosomal recessive.
Synonym: cerebellar abiotrophy, spinocerebellar ataxia
Symptoms
- Difficulty walking
- Wide-legged stance
- Balance disorders
- Uncoordinated movements
General Information
- Neonatal cerebellar cortical degeneration (NCCD) is a degenerative nerve disease
- The mutation leads to a non-functional protein which is required for the development of nerve cells (Purkinje cells).
- Symptoms are progressive → they worsen over time.
- First symptoms can appear as early as the age of 3 weeks.
- Because of the poor quality of life, affected puppies are usually euthanised within the first 4 months of life.
Breeds affected
Beagle
Test Information
This mutation test detects the deletion of 8 base pairs in the SPTBN2 gene.
Genotype and Lab Report
Inheritance: autosomal recessive
→ The disease only occurs if both alleles of the gene are affected by the mutation (nccd/nccd). Dogs that have only one allele with the causative mutation (N/nccd) are clinically healthy carriers.
Genotypes:
N/N = genetically normal
The dog has no predisposition for NCCD and therefore cannot pass it on to its offspring.
N/nccd = a carrier
The dog is a clinically healthy carrier. The variation is passed on 50% to the offspring, which are also carriers.
nccd/nccd = affected
The variation would be passed on 100% to the offspring, but the dog usually does not reach breeding age.
Recommendations
- Carrier animals can be bred to normal animals (N/nccd x N/N). Before breeding with the offspring, it should be tested whether they are normal or carriers.
- Mating two carrier animals (N/nccd x N/nccd) should be avoided because there is a 25% chance that the offspring will be affected.
- Affected animals (nccd/nccd) should be excluded from breeding if they reach breeding age.
Literature
Forman, O.P., De Risio, L., Stewart, J., Mellersh, C.S., Beltran, E.: Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation.BMC Genet 13:55, 2012. Pubmed reference: 22781464. DOI: 10.1186/1471-2156-13-55.
Further information is available at: Online Mendelian Inheritance in Animals.