Hereditary Ataxia (HA) – Breed-Specific DNA Tests
Hereditary Ataxia (HA) refers to a group of progressive neurological disorders characterised by loss of coordination, hypermetria, intention tremors, and gait abnormalities. Although the clinical signs appear similar across breeds, different genetic variants are responsible in different breeds.
LABOKLIN offers breed-specific HA DNA testing, and we automatically perform the correct variant based on the breed submitted.
General Information
Hereditary Ataxia affects the cerebellum and associated neural pathways, leading to progressive incoordination and mobility problems. Age of onset varies between breeds:
- Old English Sheepdog & Gordon Setter: 6 months – 4 years
- Norwegian Elkhound & Norwegian Buhund: 4 – 20 weeks
- Australian Shepherd & Miniature American Shepherd: 4 – 19 months
Each breed group has its own causative genetic variant, listed below.
Breed-Specific HA Variants We Test For
Hereditary Ataxia – Australian Shepherd & Miniature American Shepherd
Gene: PNPLA8
Variant: PNPLA8-associated HA
Affected dogs typically show hypermetria, bunny-hopping, and a wobbly, stiff pelvic-limb gait between 4 and 19 months. Signs progress to severe mobility impairment by 30–44 months. Histopathology reveals diffuse demyelination.
Hereditary Ataxia – Old English Sheepdog & Gordon Setter
Gene: RAB24
Variant: RAB24-associated HA
Clinical signs appear between 5 months and 4 years. Affected dogs develop progressive cerebellar neurodegeneration leading to significant gait disturbances.
Hereditary Ataxia – Norwegian Elkhound
Gene: HACE1
Variant: HACE1-associated HA
Symptoms begin early, typically between 4 and 20 weeks. Puppies may slip easily, fall over, and show an atypically low tail carriage.
Hereditary Ataxia – Norwegian Buhund
Gene: KCNIP4
Variant: KCNIP4-associated HA
Affected puppies show early-onset ataxia (4–20 weeks), slipping, falling, and reduced tail carriage similar to the Elkhound presentation but caused by a different genetic variant.
Important Notes
Breed-specific testing:
Although these conditions share the name “Hereditary Ataxia,” each breed has its own distinct mutation. When a sample is submitted, LABOKLIN performs the correct variant test based on the breed provided.
For breeds not listed above:
If the breed is not included in the list of recognised HA variants, we will require the specific variant(s) you wish to test for. Each variant is treated as a separate test and charged individually.
