Canine Mendelian disease record

Cerebellar Ataxia (Discovered in the Old English Sheepdog and the Gordon Setter)

Q: How well studied is Cerebellar Ataxia (Discovered in the Old English Sheepdog and the Gordon Setter) in dogs?

OMIA curates 9 peer-reviewed references for Cerebellar Ataxia (Discovered in the Old English Sheepdog and the Gordon Setter). The full, linked citation list is on this page.

Cerebellar Ataxia (Discovered in the Old English Sheepdog and the Gordon Setter). Autosomal recessive. Observed in 3 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,664 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier: OMIA:001913-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Summary

Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the RAB24 gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus locus heterogeneity for this phenotype must be considered.

Clinical features

"The clinical phenotype is identical in both breeds [Old English Sheepdogs and Gordon Setters] with an onset of cerebellar ataxia first noted in juvenile to young adult dogs aged from six months to four years. Dogs develop pronounced hypermetria, a truncal sway and intention tremor, and signs progress to cause severe gait disturbances. Cerebellar atrophy can be identified by magnetic resonance imaging (MRI)" (Agler et al. 2014)
Schwarz et al. (2025) reported two affected mixed breed dogs "with clinical signs of progressive cerebellar ataxia, hypermetria, and absent menace response. The MRI revealed generalized brain atrophy, reduced cortical demarcation, hypoplastic corpus callosum, and cerebellar folia thinning ... ."

Molecular genetics

Sanger sequencing of the six candidate variants (see Mapping section above) in additional cases and controls revealed the most likely causal mutation to be an "RAB24 SNP polymorphism [which] was an A to C transversion located at position 113 [c.113A>C, omia.variant:88] in the first of its eight exons . . . [which] produced an amino acid change from glutamine (Q) to proline (P) at position 38" (p.Q38P). Sequencing of the RAB24 exons in affected dogs from other breeds revealed the same allele to be potentially causative in Gordon Setters. Subsequent sequencing and SNP genotyping within this breed provided strong supportive evidence for the c.113A>C, p.Q38P mutation being causal in this breed.
Schwarz et al. (2025) investigated a family of random-bred dogs with two siblings with cerebellar ataxia and identified a different likely causal RAB24 variant: XM_038534663.1:c.239G>T or XP_038390591.1:p.(Gly80Val) (omia.variant:1826).

Pathology

As reported by Agler et al. (2014), "Histopathology, immunohistochemistry and ultrastructural evaluation of the brains of affected dogs from both breeds [Old English Sheepdogs and Gordon Setters] identified dramatic Purkinje neuron loss with axonal spheroids, accumulation of autophagosomes, ubiquitin positive inclusions and a diffuse increase in cytoplasmic neuronal ubiquitin staining."

Prevalence

Agler et al. (2014) reported an allele frequency for omia.variant:88 of 14.3% in a sample of 630 Old English Sheepdogs and 22.2% in a sample of 90 Gordon Setters. None of 194 dogs from 43 other breeds had the mutant allele.

Human analog

OMIA links this condition to the human gene record in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Gene · OMIM 612415

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001913-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers. Showing 6 of 9.

RAB24 missense variant in dogs with cerebellar ataxia. · Genes (Basel) · 2025 · PMID 40869982
An overview of canine inherited neurological disorders with known causal variants. · Animals (Basel) · 2023 · PMID 38003185
Phenotypic and genetic aspects of hereditary ataxia in dogs. · J Vet Intern Med · 2023 · PMID 37341581
Canine hereditary ataxia in Old English Sheepdogs and Gordon Setters is associated with a defect in the autophagy gene encoding RAB24. · PLoS Genet · 2014 · PMID 24516392
Cerebellar degeneration in Old English Sheepdogs · J Am Vet Med Assoc · 2000 · PMID 11043686
Canine inherited ataxia: ultrastructural observations. · J Neuropathol Exp Neurol · 1985 · PMID 3973637

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Predict a litter

Set each parent's status for Cerebellar Ataxia (Discovered in the Old English Sheepdog and the Gordon Setter) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A

Parent B

NNClear

NmCarrier

mmAffected

Clear25%

Carrier50%

Affected25%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.

Your breed

See what Cerebellar Ataxia (Discovered in the Old English Sheepdog and the Gordon Setter) looks like in your dog's breed.

Carrier frequency by breed

Top 3 well-sampled breeds (n ≥ 50)

Maximum carrier frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

0%5%10%

Old English Sheepdog3.8% · n 423

3.8%n 423

Airedale Terrier0.50% · n 200

0.50%n 200

Poodle Standard<0.1% · n 4,202

<0.1%n 4,202

n = 4,825 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas

Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Cerebellar Ataxia (Discovered in the Old English Sheepdog and the Gordon Setter) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Old English Sheepdog	3.8%	[2.3%, 6.1%]	423
Airedale Terrier	0.50%	[0.1%, 2.8%]	200
Poodle Standard	<0.1%	[0.0%, 0.1%]	4,202

263 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Scope of this record

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

Sniff Atlas v1.0.1 for the per-breed carrier frequencies:
Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.
OMIA for the disease definition, inheritance, and gene assignment:
Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:001913-9615.
Donner et al. 2023 for the breed × variant carrier-frequency cohort:
Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Sniff Atlas v1.0.1, the source dataset for these frequencies.
Browse breeds, per-breed Mendelian profiles, including this disease in context.
OMIA entry OMIA:001913-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated June 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:001913-9615 · Donner et al. 2023