Description: Cerebellar abiotrophy of the beagle (NCCD), referred to as cerebellar cortical degeneration or neonatal cerebellar cortical degeneration, is a neurodegenerative disease. NCCD disease is characterized by a number of clinical symptoms causing cerebellar dysfunction. The disease is characterized by clinical signs of cerebellar dysfunction, ataxia, which in beagles manifests itself as an inability to coordinate movement without the ability to regulate the speed and extent of movement, a broad straddle stance, loss of balance and muscle tremor. At two to three weeks after birth, when puppies normally develop coordinated movement, the affected beagles are unable to move normally.
Inheritance: autosomal recessive
Mutation: c.5855_5862del SPTBN2 (8 bp deletion in exon 29 of the SPTBN2 gene)
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: Beagle
Notes: Neonatal cerebellar cortical degeneration has also been recognized in breeds such as Rhodesian ridgeback, Samoyed or Irish setter. A causal mutation has not been identified in these breeds, yet. In the Coton de Tulear breed that has already been identified as a causative mutation in the GRM1 gene, this mutation is associated with neonatal cerebellar ataxia and cortical degeneration is only one of the symptoms in this disease (Coates et al. 2002, Zeng et al. 2011).
