{"topic_id":"companion_breed_health_labrador_retriever_cerebellar_ataxia_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_labrador_retriever_cerebellar_ataxia_dog\ncategory: companion-breed-health\ntitle: \"Labrador Retriever — cerebellar 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/labrador_retriever_cerebellar_ataxia_343.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 218\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_labrador_retriever_cerebellar_ataxia_dog/01_companion_breed_health_labrador_retriever_cerebellar_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: \"Labrador Retriever — cerebellar ataxia (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000175/9615/\"\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# Labrador Retriever — cerebellar 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: Labrador Retriever (Dog)`\n- `Disorder: cerebellar ataxia`\n- `Mode of inheritance: Wade et al. (2022): Based on past breeding studies, pedigree analysis and segregation analysis, CA has been suspected or confirmed to have an autosomal recessive mode of inheritance in many of the affected dog breeds ... .`\n- `Summary: Cerebellar abiotrophy (CA) has been diagnosed in many dog breeds and different names have been used for the disease - please see separate entries in OMIA for CA diseases with known likely causal variants, e.g. a href=../../../../../../OMIA002092/9615/OMIA:002092-9615/a : Ataxia, spinocerebellar, SPTBN2-related in Canis lupus familiaris; a href=../../../../../../OMIA002602/9615/OMIA:002602-9615/a : Cerebellar abiotrophy, VMP1-related in Canis lupus familiaris`\n- `Defect: yes`\n## Evidence (references)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.\n- 1993. Cerebellar Abiotrophy Characterized by Granular Cell Loss in  a Brittany. Veterinary Pathology — PubMed:PMID8212464 — OMIA Phene_Article / Article\n- 1995. Cerebellar cortical degeneration in a labrador retriever. Canadian Veterinary Journal — OMIA Phene_Article / Article\n- 1996. Atypical disease progression and MR imaging of a Kerry Blue Terrier with cerebellar cortical and extrapyramidal nuclear abiotrophy. Progress in Veterinary Neurology — OMIA Phene_Article / Article\n- 2000. Cerebellar cortical abiotrophy in a beagle. Journal of Small Animal Practice — PubMed:PMID10976629 — OMIA Phene_Article / Article\n- 2002. Cerebellar abiotrophy in a family of Border Collie dogs. Vet Pathol — PubMed:PMID12450206 | DOI:10.1354/vp.39-6-736 — OMIA Phene_Article / Article\n- 2010. Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis.. J Vet Med Sci — PubMed:PMID20585192 | DOI:10.1292/jvms.10-0072 — OMIA Phene_Article / Article\n- 2008. Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies.. Anim Genet — PubMed:PMID18557972 | DOI:10.1111/j.1365-2052.2008.01753.x — OMIA Phene_Article / Article\n- 1989. Hereditary cerebellar abiotrophy in Australian kelpie dogs.. Aust Vet J — PubMed:PMID2818374 — OMIA Phene_Article / Article\n- 2011. Mapping cerebellar abiotrophy in Australian Kelpies.. Anim Genet — PubMed:PMID22035013 | DOI:10.1111/j.1365-2052.2011.02199.x — OMIA Phene_Article / Article\n- 2012. Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation.. BMC Genet — PubMed:PMID22781464 | DOI:10.1186/1471-2156-13-55 — OMIA Phene_Article / Article\n- 2012. Leading the way: finding genes for neurologic disease in dogs using genome-wide mRNA sequencing.. BMC Genet — PubMed:PMID22781504 | DOI:10.1186/1471-2156-13-56 — OMIA Phene_Article / Article\n- 2014. Late-onset cerebellar abiotrophy in a Labrador Retriever.. Aust Vet J — PubMed:PMID24995529 | DOI:10.1111/avj.12211 — OMIA Phene_Article / Article\n- (11 additional references in OMIA)\n\n## Comparative medicine (human OMIM)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.\n- OMIM:600224 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n## Evidence (references)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.\n- 1993. Cerebellar Abiotrophy Characterized by Granular Cell Loss in  a Brittany. Veterinary Pathology — PubMed:PMID8212464 — OMIA Phene_Article / Article\n- 1995. Cerebellar cortical degeneration in a labrador retriever. Canadian Veterinary Journal — OMIA Phene_Article / Article\n- 1996. Atypical disease progression and MR imaging of a Kerry Blue Terrier with cerebellar cortical and extrapyramidal nuclear abiotrophy. Progress in Veterinary Neurology — OMIA Phene_Article / Article\n- 2000. Cerebellar cortical abiotrophy in a beagle. Journal of Small Animal Practice — PubMed:PMID10976629 — OMIA Phene_Article / Article\n- 2002. Cerebellar abiotrophy in a family of Border Collie dogs. Vet Pathol — PubMed:PMID12450206 | DOI:10.1354/vp.39-6-736 — OMIA Phene_Article / Article\n- 2010. Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis. J Vet Med Sci — PubMed:PMID20585192 | DOI:10.1292/jvms.10-0072 — OMIA Phene_Article / Article\n- 2008. Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID18557972 | DOI:10.1111/j.1365-2052.2008.01753.x — OMIA Phene_Article / Article\n- 1989. Hereditary cerebellar abiotrophy in Australian kelpie dogs. Aust Vet J — PubMed:PMID2818374 — OMIA Phene_Article / Article\n- 2011. Mapping cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID22035013 | DOI:10.1111/j.1365-2052.2011.02199.x — OMIA Phene_Article / Article\n- 2012. Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet — PubMed:PMID22781464 | DOI:10.1186/1471-2156-13-55 — OMIA Phene_Article / Article\n- 2012. Leading the way: finding genes for neurologic disease in dogs using genome-wide mRNA sequencing. BMC Genet — PubMed:PMID22781504 | DOI:10.1186/1471-2156-13-56 — OMIA Phene_Article / Article\n- 2014. Late-onset cerebellar abiotrophy in a Labrador Retriever. Aust Vet J — PubMed:PMID24995529 | DOI:10.1111/avj.12211 — OMIA Phene_Article / Article\n- (11 additional references in OMIA)\n\n## Comparative medicine (human OMIM)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.\n- OMIM:600224 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\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- 1993. Cerebellar Abiotrophy Characterized by Granular Cell Loss in  a Brittany. Veterinary Pathology — PubMed:PMID8212464 — OMIA Phene_Article / Article\n- 1995. Cerebellar cortical degeneration in a labrador retriever. Canadian Veterinary Journal — OMIA Phene_Article / Article\n- 1996. Atypical disease progression and MR imaging of a Kerry Blue Terrier with cerebellar cortical and extrapyramidal nuclear abiotrophy. Progress in Veterinary Neurology — OMIA Phene_Article / Article\n- 2000. Cerebellar cortical abiotrophy in a beagle. Journal of Small Animal Practice — PubMed:PMID10976629 — OMIA Phene_Article / Article\n- 2002. Cerebellar abiotrophy in a family of Border Collie dogs. Vet Pathol — PubMed:PMID12450206 | DOI:10.1354/vp.39-6-736 — OMIA Phene_Article / Article\n- 2010. Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis. J Vet Med Sci — PubMed:PMID20585192 | DOI:10.1292/jvms.10-0072 — OMIA Phene_Article / Article\n- 2008. Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID18557972 | DOI:10.1111/j.1365-2052.2008.01753.x — OMIA Phene_Article / Article\n- 1989. Hereditary cerebellar abiotrophy in Australian kelpie dogs. Aust Vet J — PubMed:PMID2818374 — OMIA Phene_Article / Article\n- 2011. Mapping cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID22035013 | DOI:10.1111/j.1365-2052.2011.02199.x — OMIA Phene_Article / Article\n- 2012. Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet — PubMed:PMID22781464 | DOI:10.1186/1471-2156-13-55 — OMIA Phene_Article / Article\n- 2012. Leading the way: finding genes for neurologic disease in dogs using genome-wide mRNA sequencing. BMC Genet — PubMed:PMID22781504 | DOI:10.1186/1471-2156-13-56 — OMIA Phene_Article / Article\n- 2014. Late-onset cerebellar abiotrophy in a Labrador Retriever. Aust Vet J — PubMed:PMID24995529 | DOI:10.1111/avj.12211 — OMIA Phene_Article / Article\n- (11 additional references in OMIA)\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:600224 (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## 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- 1993. Cerebellar Abiotrophy Characterized by Granular Cell Loss in  a Brittany. Veterinary Pathology — PubMed:PMID8212464 — OMIA Phene_Article / Article\n- 1995. Cerebellar cortical degeneration in a labrador retriever. Canadian Veterinary Journal — OMIA Phene_Article / Article\n- 1996. Atypical disease progression and MR imaging of a Kerry Blue Terrier with cerebellar cortical and extrapyramidal nuclear abiotrophy. Progress in Veterinary Neurology — OMIA Phene_Article / Article\n- 2000. Cerebellar cortical abiotrophy in a beagle. Journal of Small Animal Practice — PubMed:PMID10976629 — OMIA Phene_Article / Article\n- 2002. Cerebellar abiotrophy in a family of Border Collie dogs. Vet Pathol — PubMed:PMID12450206 | DOI:10.1354/vp.39-6-736 — OMIA Phene_Article / Article\n- 2010. Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis. J Vet Med Sci — PubMed:PMID20585192 | DOI:10.1292/jvms.10-0072 — OMIA Phene_Article / Article\n- 2008. Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID18557972 | DOI:10.1111/j.1365-2052.2008.01753.x — OMIA Phene_Article / Article\n- 1989. Hereditary cerebellar abiotrophy in Australian kelpie dogs. Aust Vet J — PubMed:PMID2818374 — OMIA Phene_Article / Article\n- 2011. Mapping cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID22035013 | DOI:10.1111/j.1365-2052.2011.02199.x — OMIA Phene_Article / Article\n- 2012. Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet — PubMed:PMID22781464 | DOI:10.1186/1471-2156-13-55 — OMIA Phene_Article / Article\n- 2012. Leading the way: finding genes for neurologic disease in dogs using genome-wide mRNA sequencing. BMC Genet — PubMed:PMID22781504 | DOI:10.1186/1471-2156-13-56 — OMIA Phene_Article / Article\n- 2014. Late-onset cerebellar abiotrophy in a Labrador Retriever. Aust Vet J — PubMed:PMID24995529 | DOI:10.1111/avj.12211 — OMIA Phene_Article / Article\n- (11 additional references in OMIA)\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:600224 (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## 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- 1993. Cerebellar Abiotrophy Characterized by Granular Cell Loss in  a Brittany. Veterinary Pathology — PubMed:PMID8212464 — OMIA Phene_Article / Article\n- 1995. Cerebellar cortical degeneration in a labrador retriever. Canadian Veterinary Journal — OMIA Phene_Article / Article\n- 1996. Atypical disease progression and MR imaging of a Kerry Blue Terrier with cerebellar cortical and extrapyramidal nuclear abiotrophy. Progress in Veterinary Neurology — OMIA Phene_Article / Article\n- 2000. Cerebellar cortical abiotrophy in a beagle. Journal of Small Animal Practice — PubMed:PMID10976629 — OMIA Phene_Article / Article\n- 2002. Cerebellar abiotrophy in a family of Border Collie dogs. Vet Pathol — PubMed:PMID12450206 | DOI:10.1354/vp.39-6-736 — OMIA Phene_Article / Article\n- 2010. Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis. J Vet Med Sci — PubMed:PMID20585192 | DOI:10.1292/jvms.10-0072 — OMIA Phene_Article / Article\n- 2008. Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID18557972 | DOI:10.1111/j.1365-2052.2008.01753.x — OMIA Phene_Article / Article\n- 1989. Hereditary cerebellar abiotrophy in Australian kelpie dogs. Aust Vet J — PubMed:PMID2818374 — OMIA Phene_Article / Article\n- 2011. Mapping cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID22035013 | DOI:10.1111/j.1365-2052.2011.02199.x — OMIA Phene_Article / Article\n- 2012. Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet — PubMed:PMID22781464 | DOI:10.1186/1471-2156-13-55 — OMIA Phene_Article / Article\n- 2012. Leading the way: finding genes for neurologic disease in dogs using genome-wide mRNA sequencing. BMC Genet — PubMed:PMID22781504 | DOI:10.1186/1471-2156-13-56 — OMIA Phene_Article / Article\n- 2014. Late-onset cerebellar abiotrophy in a Labrador Retriever. Aust Vet J — PubMed:PMID24995529 | DOI:10.1111/avj.12211 — OMIA Phene_Article / Article\n- (11 additional references in OMIA)\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:600224 (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 — Labrador Retriever — cerebellar ataxia (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Labrador Retriever — cerebellar ataxia (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/8212464/","retrieved":"","ref":"PMID 8212464","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":2776,"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."}