OMIA:000715-9796 : Neuroaxonal dystrophy, generic in Equus caballus (horse)

In other species: dog , domestic cat , sheep , rabbit

Categories: Nervous system phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 608507 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: yes

Key variant known: no

Cross-species summary: Progressive ataxia, hypermetria, proprioceptive deficits, head incoordination and tremors.

Species-specific symbol: eNAD

Species-specific description: 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; OMIA 001163-9796 : 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."

Inheritance: From a pedigree analysis, Finno et al. (2013) concluded that this disorder is polygenic with high heritability of 70%.

Molecular basis: 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."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Quarter Horse (Horse) (VBO_0001057).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:000715-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Brown, K.A., Bender, S.J., Johnson, A.L. :
Clinical and histopathological features in horses with neuroaxonal degeneration: 100 cases (2017-2021). J Vet Intern Med , 2023. Pubmed reference: 38095342. DOI: 10.1111/jvim.16969.
Donnelly, C.G., Johnson, A.L., Reed, S., Finno, C.J. :
Cerebrospinal fluid and serum proteomic profiles accurately distinguish neuroaxonal dystrophy from cervical vertebral compressive myelopathy in horses. J Vet Intern Med , 2023. Pubmed reference: 36929645. DOI: 10.1111/jvim.16660.
2022 Finno, C.J., Johnson, A.L. :
Equine neuroaxonal dystrophy and degenerative myeloencephalopathy. Vet Clin North Am Equine Pract 38:213-224, 2022. Pubmed reference: 35811203. DOI: 10.1016/j.cveq.2022.04.003.
2021 Hales, E.N., Habib, H., Favro, G., Katzman, S., Sakai, R.R., Marquardt, S., Bordbari, M.H., Ming-Whitfield, B., Peterson, J., Dahlgren, A.R., Rivas, V., Ramirez, C.A., Peng, S., Donnelly, C.G., Dizmang, B.S., Kallenberg, A., Grahn, R., Miller, A.D., Woolard, K., Moeller, B., Puschner, B., Finno, C.J. :
Increased α-tocopherol metabolism in horses with equine neuroaxonal dystrophy. J Vet Intern Med , 2021. Pubmed reference: 34331715. DOI: 10.1111/jvim.16233.
2020 Hales, E.N., Esparza, C., Peng, S., Dahlgren, A.R., Peterson, J.M., Miller, A.D., Finno, C.J. :
Genome-wide association study and subsequent exclusion of ATCAY as a candidate gene involved in equine neuroaxonal dystrophy using two animal models. Genes (Basel) 11, 2020. Pubmed reference: 31936863. DOI: 10.3390/genes11010082.
2016 Finno, C.J., Bordbari, M.H., Valberg, S.J., Lee, D., Herron, J., Hines, K., Monsour, T., Scott, E., Bannasch, D.L., Mickelson, J., Xu, L. :
Transcriptome profiling of equine vitamin E deficient neuroaxonal dystrophy identifies upregulation of liver X receptor target genes. Free Radic Biol Med 101:261-271, 2016. Pubmed reference: 27751910. DOI: 10.1016/j.freeradbiomed.2016.10.009.
2015 Finno, C.J., Estell, K.E., Katzman, S., Winfield, L., Rendahl, A., Textor, J., Bannasch, D.L., Puschner, B. :
Blood and Cerebrospinal Fluid α-Tocopherol and Selenium Concentrations in Neonatal Foals with Neuroaxonal Dystrophy. J Vet Intern Med 29:1667-75, 2015. Pubmed reference: 26391904. DOI: 10.1111/jvim.13618.
2013 Finno, C.J., Famula, T., Aleman, M., Higgins, R.J., Madigan, J.E., Bannasch, D.L. :
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 27:177-85, 2013. Pubmed reference: 23186252. DOI: 10.1111/jvim.12015.
2012 Finno, C.J., Aleman, M., Ofri, R., Hollingsworth, S.R., Madigan, J.E., Winfield, L., Bannasch, D.L. :
Electrophysiological studies in American Quarter horses with neuroaxonal dystrophy. Vet Ophthalmol 15 Suppl 2:3-7, 2012. Pubmed reference: 22432889. DOI: 10.1111/j.1463-5224.2012.00997.x.
1996 Adams, A.P., Collatos, C., Fuentealba, C., Illanes, O., Blanchard, R. :
Neuroaxonal dystrophy in a two-year-old quarter horse filly Canadian Veterinary Journal 37:43-44, 1996.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 11 Feb 2013
  • Changed by Frank Nicholas on 28 Oct 2016
  • Changed by Imke Tammen2 on 06 Aug 2021
  • Changed by Frank Nicholas on 12 Jul 2022