{"topic_id":"companion_breed_health_australian_shepherd_hereditary_ataxia_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_australian_shepherd_hereditary_ataxia_dog\ncategory: companion-breed-health\ntitle: \"Australian Shepherd — hereditary ataxia (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/australian_shepherd_hereditary_ataxia_4971.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 322\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_australian_shepherd_hereditary_ataxia_dog/01_companion_breed_health_australian_shepherd_hereditary_ataxia_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Australian Shepherd — hereditary ataxia (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000827/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Australian Shepherd — hereditary ataxia (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Australian Shepherd (Dog)`\n- `Disorder: hereditary ataxia`\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Abitbol et al. 2022 reported The owners noticed the first signs between 4 and 19 months. They described hypermetria, bunny-hopping, wobbly and stiff gait on the pelvic limbs, and difficulties in walking up or down the stairs and in getting up. The initial neurological examination revealed moderate ataxia, more obvious on the pelvic limbs, with slight hypermetria and slight to no proprioceptive deficits on the pelvic limbs. Two of the five dogs showed discrete intention tremors. These signs suggested symmetrical cerebellar involvement. Motor deficits progressed toward the inability to walk without help from the age of 30 to 44 months. Neurological examination at this stage revealed non-ambulatory tetraparesis or tetraplegia. Severe spasticity of the hind limbs and proprioceptive deficits on all four limbs were present in all affected dogs. An absent menace-response was observed in two dogs. Neuroanatomical diagnosis was therefore suggestive of multifocal central nervous system damage. ... Four of the five affected dogs were euthanized between24 and 39 months of age.`\n- `Defect: yes`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 388244480 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Abitbol et al. (2022) established monogenic autosomal recessive inheritance of the trait. The authors performed whole genome sequencing of an affected Australian Shepherd dog at 20x coverage. Subsequent to mapping and variant calling, homozygous private variants in the affected dog were filtered against 795 control genomes. This search revealed 10 homozygous private variants with SnpEff predicted …\n\n## Evidence (references)\nDerived 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.\n- 2022. A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia. Anim Genet — PubMed:PMID35864734 | DOI:10.1111/age.13245 — OMIA Phene_Article / Article\n- 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\n- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:612123 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:251950 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Australian Shepherd — hereditary ataxia (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Australian Shepherd — hereditary ataxia (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/35864734/","retrieved":"","ref":"PMID 35864734","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":811,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}