Common Symptoms
Neonatal Cerebellar Cortical Degeneration is an early onset, inherited disease affecting dogs. 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.
Breed-Specific Information for the Carlin Pinscher
Carlin pinscher is included as a breed susceptible to neonatal cerebellar cortical degeneration because the beagle was used as a founder breed in some lines of Carlin pinschers. Beagles are known to develop this disease due to Mutation of the SPTBN2 gene. The frequency of the causal mutation in the general Carlin pinscher population is unknown.
Testing Tips
Genetic testing of the SPTBN2 gene in Carlin pinschers will reliably determine whether a dog is a genetic Carrier of neonatal cerebellar cortical degeneration. Neonatal Cerebellar Cortical Degeneration is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the SPTBN2 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Carlin pinschers that are not carriers of the mutation have no increased risk of having affected pups.
There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.
References
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Forman OP, De Risio L, Stewart J, Mellersh CS, 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. 2012 Jul 10; 13:55.
[PubMed: 22781464]
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Kent M, Glass E, deLahunta A. Cerebellar cortical abiotrophy in a beagle. J Small Anim Pract. 2000 Jul;41(7):321-3.
[PubMed: 10976629]
