Old English Sheepdog — Canine hereditary ataxia (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_old_english_sheepdog_canine_hereditary_ataxia_dog category: companion-breed-health title: "Old English Sheepdog — Canine hereditary ataxia (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/old_english_sheepdog_canine_hereditary_ataxia_3699.txt date_parsed: 2026-08-02 tokens_estimated: 497 verification: method: substring_match claims: 8 passed: 8 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_old_english_sheepdog_canine_hereditary_ataxia_dog/01_companion_breed_health_old_english_sheepdog_canine_hereditary_ataxia_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Old English Sheepdog — Canine hereditary ataxia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001913/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Old English Sheepdog — Canine hereditary ataxia (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Breed: Old English Sheepdog (Dog)
• Disorder: Canine hereditary ataxia
• Mode of inheritance: Autosomal recessive
• 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.
• Clin feat: 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)brSchwarz 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 ... .
• Defect: yes
• 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.

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Gene: Entrez Gene ID 388247079 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: 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 "<em>RAB24</em> SNP polymorphism [which] was an A to C transversion located at position 113 [c.113A&gt;C, omia.variant:88] in the first of its eight exons . . . [which] produced an amino acid change from glutamine (Q) to proline (P) at posit…

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 1980. Hereditary cerebellar cortical abiotrophy in the Gordon Setter. J Am Vet Med Assoc — PubMed:PMID7440348 — OMIA Phene_Article / Article
• 1981. Clinical features of inherited cerebellar degeneration in Gordon Setters. J Am Vet Med Assoc — PubMed:PMID7341602 — OMIA Phene_Article / Article
• 2000. Cerebellar degeneration in Old English Sheepdogs. J Am Vet Med Assoc — PubMed:PMID11043686 | DOI:10.2460/javma.2000.217.1162 — OMIA Phene_Article / Article
• 2014. Canine hereditary ataxia in Old English Sheepdogs and Gordon Setters is associated with a defect in the autophagy gene encoding RAB24. PLoS Genet — PubMed:PMID24516392 | DOI:10.1371/journal.pgen.1003991 — OMIA Phene_Article / Article
• 1984. Synaptic neurochemical alterations associated with neuronal degeneration in an inherited cerebellar ataxia of Gordon Setters. J Neuropathol Exp Neurol — PubMed:PMID6502189 | DOI:10.1097/00005072-198411000-00003 — OMIA Phene_Article / Article
• 1985. Canine inherited ataxia: ultrastructural observations. J Neuropathol Exp Neurol — PubMed:PMID3973637 | DOI:10.1097/00005072-198503000-00005 — OMIA Phene_Article / Article
• 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article
• 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article
• 2025. RAB24 missense variant in dogs with cerebellar ataxia. Genes (Basel) — PubMed:PMID40869982 | DOI:10.3390/genes16080934 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:612415 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."