Test Detail
Neonatal cortical cerebellar abiotrophy (NCCD) — Hungarian Vizsla (SNX14)
Neurological · Dog
Neonatal cerebellar cortical degeneration of the Hungarian Vizsla (short- and wire-haired) due to a splice donor site mutation in SNX14, with loss of Purkinje cells. Typical ataxia begins around 3 months of age with relatively rapid progression: general incoordination, intention and head tremor, insufficient menace response and nystagmus. It is inherited in an autosomal recessive manner. It is molecularly distinct from Beagle NCCD (SPTBN2): each test is valid only for its breed.
Incidence
Applicable breeds: short-haired and wire-haired Hungarian Vizsla. Carrier frequencies: limited data.
Breeder management
- Test breeding animals (SNX14) before mating.\n- Do not cross two carriers: 25 %% risk of affected homozygotes.\n- A carrier can be crossed with a clear animal; test offspring intended for breeding.\n- Do not use the Beagle NCCD test (SPTBN2) in Vizslas or vice versa: they are different variants.\n- In cases of juvenile ataxia, include NCCD in the differential diagnosis.
Specialist notes
Differentiate from Beagle NCCD (SPTBN2, another test), from other cerebellar abiotrophies and from acquired causes (infectious, toxic, malformations). Diagnosis by clinical signs + molecular test; MRI shows cerebellar atrophy. No curative treatment.
References
1. Fenn J et al. 2016, el genoma revela mutación del sitio donador de SNX14 asociada a nueva degeneración cortical cerebelosa en Vizsla (PMID 27566131)