Neonatal Cerebellar Cortical Degeneration
Affected Genes: SPTBN2
Inheritance: Autosomal Recessive
Variant(canFam6):
chr18:49274867-49274874: 8 bp deletion (del TCAAGGCA)
Breed: Beagle
Carlin Pinscher
General Information: Neonatal cerebellar cortical degeneration is an inherited disorder in Beagles, showing symptoms like uncoordinated movement and poor balance emerging around 3 weeks of age, affecting their ability to walk and maintain stability. Characterized by the deterioration of cerebellar cells, it manifests through jerky movements, staggering, and tremors, particularly noticeable during tasks like eating. Despite a slow progression, affected puppies typically do not recover and are often euthanized due to the severity of their symptoms.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for the SPTBN2 gene identifies carriers of neonatal cerebellar cortical degeneration, a hereditary disorder affecting Beagles. This disease is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene to develop NCCD. While carriers typically show no symptoms, breeding two carriers together poses a risk of producing affected pups, with each offspring having a 25% chance of inheriting the disease. Ensuring reliable genetic testing is crucial for responsible breeding practices, advocating against pairing known carriers to prevent the transmission of the mutation and the birth of affected Beagle puppies, while unaffected Beagles pose no such risk.
References:
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 13:55.
Kent M, Glass E, deLahunta A. Cerebellar cortical abiotrophy in a beagle. J Small Anim Pract. 2000 41(7):321-323.