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.

Applicable breeds: short-haired and wire-haired Hungarian Vizsla. Carrier frequencies: limited data.

- Cerebellar ataxia from ~3 months of age, with rapid progression\n- General incoordination and intention tremor\n- Head tremor and nystagmus\n- Insufficient menace response\n- Loss of Purkinje cells (cerebellar cortical degeneration)

Fenn et al. (2016) identified by whole-genome sequencing a splice donor site mutation in SNX14 (c.2653+1G>A) associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla. It is distinct from Beagle NCCD (SPTBN2) and from other canine cerebellar abiotrophies.

- 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.

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.

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)