Warmblood (Horse) — Neuroaxonal dystrophy, generic (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: Warmblood (Horse)
Disorder:
Mode of inheritance: Multifactorial
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;
Defect: yes

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.

OMIA entry symbol: eNAD  (no structured Phene_Gene link)
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."

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.

1996. Neuroaxonal dystrophy in a two-year-old quarter horse filly. Canadian Veterinary Journal — OMIA Phene_Article / Article
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
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
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
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
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
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
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
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
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
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
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
(10 additional references in OMIA)

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:608507 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

Warmblood (Horse) — Neuroaxonal dystrophy, generic (hereditary; OMIA-verified breed predisposition)