{"topic_id":"companion_breed_health_lusitanian_horse_omia2113_horse","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_lusitanian_horse_omia2113_horse\ncategory: companion-breed-health\ntitle: \"Lusitanian (Horse) — Neuroaxonal dystrophy, generic (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 2026-08-23 from local OMIA database dump.\"\nsource_file: pdf-raw/breed-health/lusitanian_horse_omia2113_2113.txt\ndate_parsed: 2026-08-23\ntokens_estimated: 234\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-23\nrecovered: false\npath: companion-breed-health/companion_breed_health_lusitanian_horse_omia2113_horse/01_companion_breed_health_lusitanian_horse_omia2113_horse.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: \"Lusitanian (Horse) — Neuroaxonal dystrophy, generic (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000715/9796/\"\n  retrieved: \"2026-08-23\"\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\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\n# Lusitanian (Horse) — Neuroaxonal dystrophy, generic (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: Lusitanian (Horse)`\n- `Disorder: `\n- `Mode of inheritance: Multifactorial`\n- `Summary: In a detailed review, Finno and Johnson (2022) stated it was apparent that eNAD [equine NeuroAxonal Dystrophy; this OMIA entry] was clinically indistinguishable from EDM [Equine Degenerative Myeloencephalopathy; a href=../../../../../../OMIA001163/9796/OMIA:001163-9796/a : Myeloencephalopathy, degenerative in Equus caballus], and the current consensus is that the conditions have such striking clinical and pathologic similarities that eNAD could be considered a localized form of EDM or EDM a more diffuse form of eNAD. Powers et al. (2024): Equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) is a neurodegenerative disease that primarily affects young, genetically predisposed horses that are deficient in vitamin E.nbsp;`\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- OMIA entry symbol: eNAD&nbsp; (no structured Phene_Gene link)\n- OMIA molecular-genetics note: Transcriptome profiling by Finno et al. (2016) led them to \"hypothesize that the protective role of α-TOH [α-tocopherol] in eNAD may reside in its ability to prevent oxysterol accumulation and subsequent activation of the LXR [liver X receptor] in order to decrease lipid peroxidation associated neurodegeneration.\"\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- 1996. Neuroaxonal dystrophy in a two-year-old quarter horse filly. Canadian Veterinary Journal — OMIA Phene_Article / Article\n- 2013. Pedigree analysis and exclusion of alpha-tocopherol transfer protein (TTPA) as a candidate gene for neuroaxonal dystrophy in the American Quarter Horse. J Vet Intern Med — PubMed:PMID23186252 | DOI:10.1111/jvim.12015 — OMIA Phene_Article / Article\n- 2012. Electrophysiological studies in American Quarter horses with neuroaxonal dystrophy. Vet Ophthalmol — PubMed:PMID22432889 | DOI:10.1111/j.1463-5224.2012.00997.x — OMIA Phene_Article / Article\n- 2011. Equine degenerative myeloencephalopathy in Lusitano horses. J Vet Intern Med — PubMed:PMID22092640 | DOI:10.1111/j.1939-1676.2011.00817.x — OMIA Phene_Article / Article\n- 2015. Blood and cerebrospinal fluid α-tocopherol and selenium concentrations in neonatal foals with neuroaxonal dystrophy. J Vet Intern Med — PubMed:PMID26391904 | DOI:10.1111/jvim.13618 — OMIA Phene_Article / Article\n- 2016. Transcriptome profiling of equine vitamin E deficient neuroaxonal dystrophy identifies upregulation of liver X receptor target genes. Free Radic Biol Med — PubMed:PMID27751910 | DOI:10.1016/j.freeradbiomed.2016.10.009 — OMIA Phene_Article / Article\n- 2020. Genome-wide association study and subsequent exclusion of ATCAY as a candidate gene involved in equine neuroaxonal dystrophy using two animal models. Genes (Basel) — PubMed:PMID31936863 | DOI:10.3390/genes11010082 — OMIA Phene_Article / Article\n- 2021. Increased α-tocopherol metabolism in horses with equine neuroaxonal dystrophy. J Vet Intern Med — PubMed:PMID34331715 | DOI:10.1111/jvim.16233 — OMIA Phene_Article / Article\n- 2022. Equine neuroaxonal dystrophy and degenerative myeloencephalopathy. Vet Clin North Am Equine Pract — PubMed:PMID35811203 | DOI:10.1016/j.cveq.2022.04.003 — OMIA Phene_Article / Article\n- 2023. Cerebrospinal fluid and serum proteomic profiles accurately distinguish neuroaxonal dystrophy from cervical vertebral compressive myelopathy in horses. J Vet Intern Med — PubMed:PMID36929645 | DOI:10.1111/jvim.16660 — OMIA Phene_Article / Article\n- 2024. Clinical and histopathological features in horses with neuroaxonal degeneration: 100 cases (2017-2021). J Vet Intern Med — PubMed:PMID38095342 | DOI:10.1111/jvim.16969 — OMIA Phene_Article / Article\n- 2011. Evaluation of epidemiological, clinical, and pathological features of neuroaxonal dystrophy in Quarter Horses. J Am Vet Med Assoc — PubMed:PMID21916766 | DOI:10.2460/javma.239.6.823 — OMIA Phene_Article / Article\n- (10 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:608507 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-breed-health — Lusitanian (Horse) — Neuroaxonal dystrophy, generic (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Lusitanian (Horse) — Neuroaxonal dystrophy, generic (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/23186252/","retrieved":"","ref":"PMID 23186252","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":1028,"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."}