Test Detail

Inherited neurodegenerative disease characterised by progressive loss of cerebellar Purkinje cells. In the Beagle it presents as neonatal cerebellar cortical degeneration (NCCD), with ataxia beginning in the first weeks of life that worsens rapidly. It is an abiotrophy (degeneration of previously formed cells), distinct from developmental cerebellar hypoplasia. In the Hungarian Vizsla a cerebellar cortical degeneration with onset at around 3 months is described, caused by another gene.

Limited data. In the Beagle, NCCD has been described in isolated cases with familial segregation; in the Hungarian Vizsla, screening of unaffected vizslas revealed a few heterozygotes. No reliable population frequencies have been published.

- In litters with several affected puppies, do not repeat the parental mating
- In the Beagle (SPTBN2) and Vizsla (SNX14) a genetic test exists; genotype breeding animals from lines with a history
- Do not mate two carriers: 25 % risk of affected homozygotes
- Avoid matings between animals with a family history of cerebellar degeneration
- Confirm the diagnosis with a neurological examination and, if necessary, histopathological study of the cerebellum

Differentiate from neonatal cerebellar hypoplasia due to canine parvovirus (fetal or neonatal infection), from leucodystrophies and from other hereditary ataxias of early onset. MRI shows cerebellar atrophy. Histopathological analysis of the cerebellum in the affected animal confirms the loss of Purkinje cells. Molecular diagnosis is possible (SPTBN2 in the Beagle; SNX14 in the Vizsla).

1. Forman OP et al. (2012) 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. PMID: 22781464
2. Fenn J et al. (2016) Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed. BMC Genet 17(1):123. PMID: 27566131