OMIA:000263-9615 : Degenerative myelopathy in Canis lupus familiaris (dog)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 105400 (trait) , 147450 (gene) , 618598 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2009

Species-specific name: Canine degenerative myelopathy

Species-specific symbol: DM

Species-specific description: This is an adult onset degeneration of the spinal cord that progresses to paraplegia and tetraparesis. There is no successful treatment. A genetic test is available. A different mutation in the SOD1 gene causes an early onset disease: OMIA:002322-9615 : Dyskinesia, paroxysmal, SOD1-related in Canis lupus familiaris.

Mapping: By conducting a GWAS on 38 affected and 17 control Pembroke Welsh corgis, each genotyped with the Affymetrix Canine Genome 2.0 Array (yielding 49,663 SNPs for analysis), Awano et al. (2009) highlighted a region of chromosome CFA31 that contains the comparative candidate gene, SOD1. By conducting a GWAS on 15 affected and 69 control German Shepherd dogs, each genotyped with the Affymetrix v2 canine SNP chip (Yielding 48,415 SNPs for the analysis), Tsai et al. (2012) highlighted a 1.615Mb region on chromosome CFA31 (the same as that highlighted by Awano et al., 2009), which contains the SOD1 gene, mutations in which had already been shown to be causal (see Molecular basis section).

Molecular basis: The first likely causative variant described is a G to A transition (c.118G>A; p.E40K) in exon 2 of SOD1. All affected dogs tested were homozygous mutant. However, some homozygous mutant dogs had no signs of degenerative myelopathy, which suggests incomplete penetrance or other causative loci (Awano et al., 2009). The mutation is hypothesized to lead to SOD1 aggregation, as cytoplasmic inclusions in affected dogs stain with anti-SOD1 antibodies (Awano et al., 2009). A second causal mutation (c.52A>T; p.Thr18Ser) in the same gene, in a Bernese Mountain Dog, was reported by Wininger et al. (2011). Having genotyped 408 Bernese Mountains dogs for both the above mutations, Pfahler et al. (2014) reported that "The c.118G>A mutation was heterozygous in 188 (46.1%) and homozygous in 27 (6.6%) BMD (Table S2). The c.52A>T mutation was heterozygous in 65 (15.9%) and homozygous in two (0.5%) dogs. Twenty-two of the animals had both SOD1 mutations heterozygous (5.4%). The haplotype analysis for all BMD revealed no haplotype with both mutated alleles on a single chromosome (Figs S1 and S2). Therefore, these 22 dogs are likely to be compound heterozygous for the SOD1 haplotypes AA and TG." One of the 22 compound heterozygotes showed clinical signs of degenerative myelopathy. Summarising all available evidence, Pfahler et al. (2014) concluded that "compound heterozygosity [for the two mutations] may confer a similar risk to DM like the c.118G>A homozygous mutation". Ivansson et al. (2016) reported "that variations in SP110-mediated gene transcription may underlie, at least in part, the variability in risk for developing DM among PWCs that are homozygous for the disease-related SOD1 mutation" Mandrioli et al. (2021) reported that "three [affected Hovawart] dogs were homozygous for the c.118A allele, but none had the SP110 'risk' haplotype, suggesting a weak association of SP110 with the onset of DM in this breed. Our data suggest that the Hovawart breed is predisposed to the SOD1:c.118G>A mutation, which is associated with the development of DM."

Clinical features: Most dogs are at least 8 years of age at the onset of clinical signs, which include hyporeflexia, upper motor neuron proprioceptive spasticity and ataxia in the pelvic limbs. Widespread limb muscle atrophy can be observed and the disease progresses to paraplegia and eventually flaccid tetraparesis (Awano et al., 2009). Hyperesthesia, cranial nerve signs (e.g. difficulty in swallowing and barking), urinary and fecal incontinence (Coates et al., 2010) can be observed and in final stages of the disease respiratory muscles fail (Nardone et al., 2016). There is no effective treatment. [IT thanks DVM student Jane Lai for contributions to this entry in April 2022].

Pathology: Histopathologic examination of the spinal cord is necessary for definitive diagnosis. Noninflammatory axonal and myelin degeneration is present at all levels of the spinal cord, being most severe in the dorsal lateral funiculus within the middle to caudal thoracic region. Segmental axonal and myelin degeneration, endoneurial fibrosis, hypomyelinated fibers and secondary demyelination are present in peripheral nerves. Axon cylinder vacuolization is characteristic (Coates et al., 2010).

Prevalence: In an extensive project, Zeng et al. (2014) genotyped 33,747 dogs representing 222 breeds for both known mutant alleles, namely c.52T and c.118A. They concluded that "the SOD1:c.118A allele is widespread and common among privately owned dogs whereas the SOD1:c.52T allele is rare and appears to be limited to Bernese Mountain Dogs." Full details are available in the paper. Mizukami et al. (2016) reported the frequency of the c.118A allele as 0.008 in 500 Border collies in Japan. Regarding the insertion reported by Turba et al. (2107), these authors reported that "The allele containing the insertion was highly prevalent in Hovawart dogs, accounting for the 26.6% of allele frequency. The insertion was also found in other unrelated breeds such as Rough Collies and Standard Poodles." Santos et al. (2020) genotyped 97 German Shepherd dogs for the SOD1:c.118G>A mutation using a PCR/RFLP test. The dogs were located in Brazil and had no clinical signs of degenerative myelopathy at the time of sampling. They “observed genotype frequencies (with 95% confidence interval) of: 0.758 (0.672-0.844), 0.242 (0.156-0.328) and 0.000 (0.000-0.000) for "GG", "AG" and "AA" genotypes, respectively.” Maki et al. (2022) genotyped 541 German Shepherd Dogs (GSD) registered with the Japanese GSD Registration Society from 2000 to 2019, for the SOD1:c.118G>A likely causal variant (OMIAvariantID:36). They reported "330 G/G dogs (61%), 184 G/A dogs (34%), and 27 A/A dogs (5%), indicating a frequency of the mutant allele of 0.220". For each of the seven A/A dogs over 10 years old (this being an adult-onset disease), the owners reported "DM-related clinical signs, indicating a clinical progression rate of 100%".

Control: Due to the high frequency of the causative mutation in Boxers and Pembroke Welsh Corgis, in these breeds it is not practical to exclude carriers from breeding, so it is recommended that carriers be bred to noncarriers. Breeding of affected dogs of any breed should be avoided.

Genetic testing: Investigating the "many discordant findings between the parental and the offspring genotypes found by different laboratories" in testing for the c.118G>A variant, Turba et al. (2017) discovered "An insertion of 54 nucleotides [in the SOD1 gene] composed of a poly-T stretch and 15 nucleotides containing the duplication of the exon 2-intron 2 junction was . . . responsible for the partial mismatch of the reverse primer used for a direct sequencing assay. The mismatch hampered the amplification of the corresponding allele and caused an evident drop-out effect. The insertion is in complete linkage disequilibrium with the c.118G allele." Santos et al. (2020) identified “a deletion of one “T” in the position 26540247 described as ENSCAFG00000008859:g.26540247del … located in the intron 1 of the SOD1 gene. … Although the role of the ENSCAFG00000008859:g.26540247del on structure and expression of SOD1 (and consequently its relationship with CDM) was not investigated in this study, its location does not suggest that it can influence the expression of the studied disease.” However, this variant prevented in a small number of dogs adequate genotyping of the SOD1:c.118G>A in the PCR-RFLP test used in this study.

Breeds: American Eskimo Dog (Dog) (VBO_0200046), Belgian Shepherd Dog (Dog) (VBO_0200144), Bernese Mountain Dog (Dog) (VBO_0200161), Boxer (Dog) (VBO_0200210), Briard (Dog) (VBO_0200234), Cardigan Welsh Corgi (Dog) (VBO_0200290), Chesapeake Bay Retriever (Dog) (VBO_0200326), Dalmatian (Dog) (VBO_0200427), German Shepherd Dog (Dog) (VBO_0200577), Golden Retriever (Dog) (VBO_0200610), Great Pyrenees (Dog) (VBO_0200629), Hovawart (Dog) (VBO_0200674), Irish Setter (Dog) (VBO_0200702), Kerry Blue Terrier (Dog) (VBO_0200764), obsolete Alaskan Sled Dog (Dog) (VBO_0200019), Pembroke Welsh Corgi (Dog) (VBO_0200995), Poodle, Miniature (Dog) (VBO_0201051), Poodle, Standard (Dog) (VBO_0201056), Pug (Dog) (VBO_0201089), Rhodesian Ridgeback (Dog) (VBO_0201135), Samoyed (Dog) (VBO_0201174), Siberian Husky (Dog) (VBO_0201233), Soft Coated Wheaten Terrier (Dog) (VBO_0201260), Weimaraner (Dog) (VBO_0201401), Wire Fox Terrier (Dog) (VBO_0201424).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated genes:

Symbol Description Species Chr Location OMIA gene details page Other Links
SOD1 superoxide dismutase 1, soluble Canis lupus familiaris 31 NC_051835.1 (26654922..26662986) SOD1 Homologene, Ensembl , NCBI gene
SP110 SP110 nuclear body protein Canis lupus familiaris 25 NC_051829.1 (42715740..42674227) SP110 Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
36 Belgian Shepherd Dog (Dog) Boxer (Dog) Chesapeake Bay Retriever (Dog) German Shepherd Dog (Dog) Great Pyrenees (Dog) Hovawart (Dog) Pembroke Welsh Corgi (Dog) Rhodesian Ridgeback (Dog) Degenerative myelopathy SOD1 missense Naturally occurring variant CanFam3.1 31 g.26540342G>A c.118G>A p.(E40K) NM_001003035.1; NP_001003035.1, PMID:38081509 is reference for Pyrenean Mountain dog 2009 19188595
87 Bernese Mountain Dog (Dog) Degenerative myelopathy SOD1 missense Naturally occurring variant ROS_Cfam_1.0 31 g.26654979A>T c.52A>T p.(T18S) NM_001003035.1; NP_001003035.1 2011 21848967

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000263-9615: 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.

2024 Moretti, R., Massimello, G., Chessa, S., Sartore, S., Tranchero, A., Profiti, M., Sacchi, P. :
Allele and genotype frequencies for primary hereditary cataract, multifocal retinopathy 1, and degenerative myelopathy in Pyrenean Mountain dog from Italy. Top Companion Anim Med 58:S1938-9736(23)00084-3:100844, 2024. Pubmed reference: 38081509. DOI: 10.1016/j.tcam.2023.100844.
2023 Bouché, T.V., Coates, J.R., Moore, S.A., Faissler, D., Rishniw, M., Olby, N.J. :
Diagnosis and management of dogs with degenerative myelopathy: A survey of neurologists and rehabilitation professionals. J Vet Intern Med 37:1815-1820, 2023. Pubmed reference: 37606360. DOI: 10.1111/jvim.16829.
Cocostîrc, V., Paștiu, A.I., Doboși, A.A., Lucaci, F.D., Turcu, M.C., Borzan, M.M., Pusta, D.L. :
Molecular surveillance of canine degenerative myelopathy in breeding kennels from Romania. Animals (Basel) 13:1403, 2023. Pubmed reference: 37106965. DOI: 10.3390/ani13081403.
Gouveia, D., Correia, J., Cardoso, A., Carvalho, C., Oliveira, A.C., Almeida, A., Gamboa, Ó., Ribeiro, L., Branquinho, M., Sousa, A., Lopes, B., Sousa, P., Moreira, A., Coelho, A., Rêma, A., Alvites, R., Ferreira, A., Maurício, A.C., Martins, Â. :
Intensive neurorehabilitation and allogeneic stem cells transplantation in canine degenerative myelopathy. Front Vet Sci 10:1192744, 2023. Pubmed reference: 37520009. DOI: 10.3389/fvets.2023.1192744.
Hashimoto, K., Watanabe, S., Akutsu, M., Muraki, N., Kamishina, H., Furukawa, Y., Yamanaka, K. :
Intrinsic structural vulnerability in the hydrophobic core induces species-specific aggregation of canine SOD1 with degenerative myelopathy-linked E40K mutation. J Biol Chem :104798, 2023. Pubmed reference: 37156398. DOI: 10.1016/j.jbc.2023.104798.
Kountourantzis, A., Minoudi, S., Karaiskou, N., Papakostas, S., Moulistanos, A., Baka, R.D., Tsartsianidou, V., Vlachavas, A., Aivaliotis, M., Polizopoulou, Z.S., Triantafyllidis, A. :
Prevalence of SOD1 allele associated with degenerative myelopathy in canine population in Greece. Res Vet Sci 162:104959, 2023. Pubmed reference: 37480717. DOI: 10.1016/j.rvsc.2023.104959.
Majchrakova, Z., Hrckova Turnova, E., Bielikova, M., Turna, J., Dudas, A. :
The incidence of genetic disease alleles in Australian Shepherd dog breed in European countries. PLoS One 18:e0281215, 2023. Pubmed reference: 36848350. DOI: 10.1371/journal.pone.0281215.
Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. :
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7.
Pancotto, T.E. :
Rehabilitation therapy for the degenerative myelopathy patient. Vet Clin North Am Small Anim Pract 53:845-856, 2023. Pubmed reference: 37179117. DOI: 10.1016/j.cvsm.2023.02.017.
Ukawa, H., Akiyama, N., Yamamoto, F., Ohashi, K., Ishihara, G., Matsumoto, Y. :
Negative selection on a SOD1 mutation limits canine degenerative myelopathy while avoiding inbreeding. Genome Biol Evol :evad231, 2023. Pubmed reference: 38109923. DOI: 10.1093/gbe/evad231.
Zhu, L., Li, S., Li, X.J., Yin, P. :
Pathological insights from amyotrophic lateral sclerosis animal models: comparisons, limitations, and challenges. Transl Neurodegener 12:46, 2023. Pubmed reference: 37730668. DOI: 10.1186/s40035-023-00377-7.
2022 Maki, S., Islam, M.S., Itoh, T., Nurimoto, M., Yabuki, A., Furusawa, Y., Kamishina, H., Kobatake, Y., Rakib, T.M., Tacharina, M.R., Yamato, O. :
Molecular epidemiological survey for degenerative myelopathy in German shepherd dogs in Japan: Allele frequency and clinical progression rate. Animals (Basel) 12:1647, 2022. Pubmed reference: 35804546. DOI: 10.3390/ani12131647.
Nomura, S., Kobatake, Y., Takashima, S., Kamishina, H., Urushitani, M., Nishii, N. :
The inhibitory effects of MIF on accumulation of canine degenerative myelopathy-associated mutant SOD1 aggregation. Res Vet Sci 147:7-11, 2022. Pubmed reference: 35364344. DOI: 10.1016/j.rvsc.2022.03.013.
Wakayama, K., Kimura, S., Kobatake, Y., Kamishina, H., Nishii, N., Takashima, S., Honda, R., Kamatari, Y.O. :
Molecular mechanisms of aggregation of canine SOD1 E40K amyloidogenic mutant protein. Molecules 28:156, 2022. Pubmed reference: 36615350. DOI: 10.3390/molecules28010156.
2021 Bonifacino, T., Zerbo, R.A., Balbi, M., Torazza, C., Frumento, G., Fedele, E., Bonanno, G., Milanese, M. :
Nearly 30 years of animal models to study amyotrophic lateral sclerosis: A historical overview and future perspectives. Int J Mol Sci 22:12236, 2021. Pubmed reference: 34830115. DOI: 10.3390/ijms222212236.
Mandrioli, L., Gandini, G., Gentilini, F., Chiocchetti, R., Turba, M.E., Avallone, G., Pellegrino, V., Menchetti, M., Kobatake, Y., Kamishina, H., Cantile, C. :
Degenerative myelopathy in Hovawart dogs: Molecular characterization, pathological features and accumulation of mutant superoxide dismutase 1 protein. J Comp Pathol 182:37-42, 2021. Pubmed reference: 33494906. DOI: 10.1016/j.jcpa.2020.11.006.
Mataragka, A., Ikonomopoulos, J., Zervas, G.S., Vamvakidis, C.D., Tzimotoudis, N., Hager-Theodorides, A.L., Gazouli, M., Kominakis, A. :
Allele and genotype frequencies of the SOD1 gene polymorphism associated with canine degenerative myelopathy in Belgian Malinois dogs in Greece. Vet World 14:1472-1479, 2021. Pubmed reference: 34316194. DOI: 10.14202/vetworld.2021.1472-1479.
Tanaka, N., Kimura, S., Kamatari, Y.O., Nakata, K., Kobatake, Y., Inden, M., Yamato, O., Urushitani, M., Maeda, S., Kamishina, H. :
In vitro evidence of propagation of superoxide dismutase-1 protein aggregation in canine degenerative myelopathy. Vet J 274:105710, 2021. Pubmed reference: 34166783. DOI: 10.1016/j.tvjl.2021.105710.
Thorsrud, J.A., Huson, H.J. :
Description of breed ancestry and genetic health traits in arctic sled dog breeds. Canine Med Genet 8:8, 2021. Pubmed reference: 34544496. DOI: 10.1186/s40575-021-00108-z.
2020 Draper, A.C.E., Wilson, Z., Maile, C., Faccenda, D., Campanella, M., Piercy, R.J. :
Species-specific consequences of an E40K missense mutation in superoxide dismutase 1 (SOD1). FASEB J 34:458-473, 2020. Pubmed reference: 31914665. DOI: 10.1096/fj.201901455R.
Kimura, S., Kamatari, Y.O., Kuwahara, Y., Hara, H., Yamato, O., Maeda, S., Kamishina, H., Honda, R. :
Canine SOD1 harboring E40K or T18S mutations promotes protein aggregation without reducing the global structural stability. PeerJ 8:e9512, 2020. Pubmed reference: 32742795. DOI: 10.7717/peerj.9512.
Santos, C.R.O., Gouveia, J.J.S., Gouveia, G.V., Bezerra, F.C.M., Nogueira, J.F., Baraúna Júnior, D. :
Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil. PLoS One 15:e0242347, 2020. Pubmed reference: 33196688. DOI: 10.1371/journal.pone.0242347.
Story, B.D., Miller, M.E., Bradbury, A.M., Million, E.D., Duan, D., Taghian, T., Faissler, D., Fernau, D., Beecy, S.J., Gray-Edwards, H.L. :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101. DOI: 10.3389/fvets.2020.00080.
2019 Nakata, K., Heishima, K., Sakai, H., Yamato, O., Furusawa, Y., Nishida, H., Maeda, S., Kamishina, H. :
Plasma microRNA miR-26b as a potential diagnostic biomarker of degenerative myelopathy in Pembroke welsh corgis. BMC Vet Res 15:192, 2019. Pubmed reference: 31182094. DOI: 10.1186/s12917-019-1944-3.
Qi, Y., Montague, P., Loney, C., Campbell, C., Shafie, I.N.F., Anderson, T.J., McLaughlin, M. :
In vitro evidence consistent with an interaction between wild type and a mutant SOD1 protein associated with canine degenerative myelopathy. Eur J Neurosci , 2019. Pubmed reference: 31336405. DOI: 10.1111/ejn.14526.
2018 Yokota, S., Kobatake, Y., Noda, Y., Nakata, K., Yamato, O., Hara, H., Sakai, H., Nishida, H., Maeda, S., Kamishina, H. :
Activation of the unfolded protein response in canine degenerative myelopathy. Neurosci Lett 687:216-222, 2018. Pubmed reference: 30273700. DOI: 10.1016/j.neulet.2018.09.040.
2017 Kobatake, Y., Sakai, H., Tsukui, T., Yamato, O., Kohyama, M., Sasaki, J., Kato, S., Urushitani, M., Maeda, S., Kamishina, H. :
Localization of a mutant SOD1 protein in E40K-heterozygous dogs: Implications for non-cell-autonomous pathogenesis of degenerative myelopathy. J Neurol Sci 372:369-378, 2017. Pubmed reference: 27838005. DOI: 10.1016/j.jns.2016.10.034.
Kohyama, M., Kitagawa, M., Kamishina, H., Kobatake, Y., Yabuki, A., Sawa, M., Kakita, S., Yamato, O. :
Degenerative myelopathy in the Collie breed: a retrospective immunohistochemical analysis of superoxide dismutase 1 in an affected Rough Collie, and a molecular epidemiological survey of the SOD1: c.118G>A mutation in Japan. J Vet Med Sci 79:375-379, 2017. Pubmed reference: 27941298. DOI: 10.1292/jvms.16-0391.
Turba, M.E., Loechel, R., Rombolà, E., Gandini, G., Gentilini, F. :
Evidence of a genomic insertion in intron 2 of SOD1 causing allelic drop-out during routine diagnostic testing for canine degenerative myelopathy. Anim Genet 48:365-368, 2017. Pubmed reference: 27917507. DOI: 10.1111/age.12525.
2016 Ivansson, E.L., Megquier, K., Kozyrev, S.V., Murén, E., Körberg, I.B., Swofford, R., Koltookian, M., Tonomura, N., Zeng, R., Kolicheski, A.L., Hansen, L., Katz, M.L., Johnson, G.C., Johnson, G.S., Coates, J.R., Lindblad-Toh, K. :
Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy. Proc Natl Acad Sci U S A 113:E3091-100, 2016. Pubmed reference: 27185954. DOI: 10.1073/pnas.1600084113.
Mizukami, K., Yabuki, A., Kohyama, M., Kushida, K., Rahman, M.M., Uddin, M.M., Sawa, M., Yamato, O. :
Molecular prevalence of multiple genetic disorders in Border collies in Japan and recommendations for genetic counselling. Vet J 214:21-3, 2016. Pubmed reference: 27387721. DOI: 10.1016/j.tvjl.2016.05.004.
Nardone, R., Höller, Y., Taylor, A.C., Lochner, P., Tezzon, F., Golaszewski, S., Brigo, F., Trinka, E. :
Canine degenerative myelopathy: a model of human amyotrophic lateral sclerosis. Zoology (Jena) 119:64-73, 2016. Pubmed reference: 26432396. DOI: 10.1016/j.zool.2015.09.003.
2014 Holder, A.L., Price, J.A., Adams, J.P., Volk, H.A., Catchpole, B. :
A retrospective study of the prevalence of the canine degenerative myelopathy associated superoxide dismutase 1 mutation (SOD1:c.118G > A) in a referral population of German Shepherd dogs from the UK. Canine Genet Epidemiol 1:10, 2014. Pubmed reference: 26401327. DOI: 10.1186/2052-6687-1-10.
Lovett, M.C., Coates, J.R., Shu, Y., Oglesbee, M.J., Fenner, W., Moore, S.A. :
Quantitative assessment of hsp70, IL-1β and TNF-α in the spinal cord of dogs with E40K SOD1-associated degenerative myelopathy. Vet J , 2014. Pubmed reference: 24662024. DOI: 10.1016/j.tvjl.2014.03.003.
Pfahler, S., Bachmann, N., Fechler, C., Lempp, C., Baumgärtner, W., Distl, O. :
Degenerative myelopathy in a SOD1 compound heterozygous Bernese mountain dog. Anim Genet 45:309-10, 2014. Pubmed reference: 24450472. DOI: 10.1111/age.12118.
Zeng, R., Coates, J.R., Johnson, G.C., Hansen, L., Awano, T., Kolicheski, A., Ivansson, E., Perloski, M., Lindblad-Toh, K., O'Brien, D.P., Guo, J., Katz, M.L., Johnson, G.S. :
Breed distribution of SOD1 alleles previously associated with canine degenerative myelopathy. J Vet Intern Med 28:515-21, 2014. Pubmed reference: 24524809. DOI: 10.1111/jvim.12317.
2013 Broeckx, B.J., Coopman, F., Verhoeven, G.E., Van Haeringen, W., van de Goor, L., Bosmans, T., Gielen, I., Saunders, J.H., Soetaert, S.S., Van Bree, H., Van Neste, C., Van Nieuwerburgh, F., Van Ryssen, B., Verelst, E., Van Steendam, K., Deforce, D. :
The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany. PLoS One 8:e74811, 2013. Pubmed reference: 24069350. DOI: 10.1371/journal.pone.0074811.
Chang, H.S., Kamishina, H., Mizukami, K., Momoi, Y., Katayama, M., Rahman, M.M., Uddin, M.M., Yabuki, A., Kohyama, M., Yamato, O. :
Genotyping assays for the canine degenerative myelopathy-associated c.118G>A (p.E40K) mutation of the SOD1 gene using conventional and real-time PCR methods: a high prevalence in the Pembroke Welsh Corgi breed in Japan. J Vet Med Sci 75:795-8, 2013. Pubmed reference: 23328634. DOI: 10.1292/jvms.12-0451.
Crisp, M.J., Beckett, J., Coates, J.R., Miller, T.M. :
Canine degenerative myelopathy: biochemical characterization of superoxide dismutase 1 in the first naturally occurring non-human amyotrophic lateral sclerosis model. Exp Neurol 248:1-9, 2013. Pubmed reference: 23707216. DOI: 10.1016/j.expneurol.2013.05.009.
Ogawa, M., Uchida, K., Yamato, O., Inaba, M., Uddin, M.M., Nakayama, H. :
Neuronal loss and decreased GLT-1 expression observed in the spinal cord of Pembroke Welsh Corgi dogs with canine degenerative myelopathy. Vet Pathol , 2013. Pubmed reference: 23839236. DOI: 10.1177/0300985813495899.
Shafie, I.N., McLaughlin, M., Burchmore, R., Lim, M.A., Montague, P., Johnston, P.E., Penderis, J., Anderson, T.J. :
The chaperone protein clusterin may serve as a cerebrospinal fluid biomarker for chronic spinal cord disorders in the dog. Cell Stress Chaperones 19:311-320, 2013. Pubmed reference: 23990410. DOI: 10.1007/s12192-013-0457-4.
2012 Shelton, G.D., Johnson, G.C., O'Brien, D.P., Katz, M.L., Pesayco, J.P., Chang, B.J., Mizisin, A.P., Coates, J.R. :
Degenerative myelopathy associated with a missense mutation in the superoxide dismutase 1 (SOD1) gene progresses to peripheral neuropathy in Pembroke Welsh corgis and boxers. J Neurol Sci 318:55-64, 2012. Pubmed reference: 22542607. DOI: 10.1016/j.jns.2012.04.003.
Tsai, K.L., Noorai, R.E., Starr-Moss, A.N., Quignon, P., Rinz, C.J., Ostrander, E.A., Steiner, J.M., Murphy, K.E., Clark, L.A. :
Genome-wide association studies for multiple diseases of the German Shepherd Dog. Mamm Genome 23:203-11, 2012. Pubmed reference: 22105877. DOI: 10.1007/s00335-011-9376-9.
2011 Ogawa, M., Uchida, K., Park, E.S., Kamishina, H., Sasaki, J., Chang, H.S., Yamato, O., Nakayama, H. :
Immunohistochemical observation of canine degenerative myelopathy in two Pembroke Welsh Corgi dogs. J Vet Med Sci 73:1275-9, 2011. Pubmed reference: 21628865.
Wininger, F.A., Zeng, R., Johnson, G.S., Katz, M.L., Johnson, G.C., Bush, W.W., Jarboe, J.M., Coates, J.R. :
Degenerative myelopathy in a Bernese Mountain Dog with a novel SOD1 missense mutation. J Vet Intern Med 25:1166-70, 2011. Pubmed reference: 21848967. DOI: 10.1111/j.1939-1676.2011.0760.x.
2010 Coates, JR., Wininger, FA. :
Canine degenerative myelopathy. Vet Clin North Am Small Anim Pract 40:929-50, 2010. Pubmed reference: 20732599. DOI: 10.1016/j.cvsm.2010.05.001.
2009 Awano, T., Johnson, GS., Wade, CM., Katz, ML., Johnson, GC., Taylor, JF., Perloski, M., Biagi, T., Baranowska, I., Long, S., March, PA., Olby, NJ., Shelton, GD., Khan, S., O'Brien, DP., Lindblad-Toh, K., Coates, JR. :
Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 106:2794-9, 2009. Pubmed reference: 19188595. DOI: 10.1073/pnas.0812297106.
Miller, AD., Barber, R., Porter, BF., Peters, RM., Kent, M., Platt, SR., Schatzberg, SJ. :
Degenerative myelopathy in two Boxer dogs. Vet Pathol 46:684-7, 2009. Pubmed reference: 19276068. DOI: 10.1354/vp.08-VP-0270-M-BC.
2008 Coates, JR., March, PA., Oglesbee, M., Ruaux, CG., Olby, NJ., Berghaus, RD., O'Brien, DP., Keating, JH., Johnson, GS., Williams, DA. :
Clinical characterization of a familial degenerative myelopathy in Pembroke Welsh Corgi dogs. J Vet Intern Med 21:1323-31, 2008. Pubmed reference: 18196743.
2003 Fechner, H., Johnston, P.E., Sharp, N.J., Montague, P., Griffiths, I.R., Wang, X., Olby, N., Looman, A.C., Poller, W., Flegel, T. :
Molecular genetic and expression analysis of alpha-tocopherol transfer protein mRNA in German shepherd dogs with degenerative myelopathy Berliner und Munchener Tierarztliche Wochenschrift 116:31-36, 2003. Pubmed reference: 12592926.
2002 Catchpole, B. :
Degenerative myelopathy in German shepherd dogs Veterinary Record 150:88, 2002.
1994 Barclay, K.B., Haines, D.M. :
Immunohistochemical evidence for immunoglobulin and complement deposition in spinal cord lesions in degenerative myelopathy in German Shepherd dogs. Canadian Journal of Veterinary Research - Revue Canadienne de Recherche Veterinaire 58:20-24, 1994. Pubmed reference: 8143248.

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