The detail information of Degenerative myelopathy
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2009

Species-specific name: Canine degenerative myelopathy

Species-specific symbol: DM

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB7 American Eskimo Dog 22.9-30.5 cm (toy), 30.5-38.1 cm (miniature), 38.1-48.3 cm (Standard) 2.7-4.5 kg (toy), 4.5-9.1 kg (miniature), 11.3-15.9 kg (standard) Germany
CB34 Bernese Mountain Dog 63.5-71.1 cm (male), 58.4-66 cm (female) 39-49.9 kg (male), 35.8-49.9 kg (female) Switzerland
CB48 German Boxer 58.4-63.5 cm (male), 54.6-59.7 cm (female) 29.5-36.3 kg (male), females are about 6.8 kg less than male Germany
CB63 Cardigan Welsh Corgi 26.7-31.8 cm 13.6-17.2 kg (male), 11.3-15.4 kg (female) Wales
CB70 Chesapeake Bay Retriever 58.4-66 cm (male), 53.3-61 cm (female) 29.5-36.3 kg (male), 24.9-31.8 kg (female) United States
CB110 German Shepherd Dog 61-66 cm (male), 55.9-61 cm (female) 29.5-40.8 kg (male), 22.7-31.8 kg (female) Germany
CB116 Golden Retriever 58.4-61 cm (male), 54.6-57.2 cm (female) 29.5-34 kg (male), 24.9-29.5 kg (female) United Kingdom (Scotland)
CB142 Irish Blue Terrier 45.7-49.5 cm (male), 44.5-48.3 cm (female) 15-18.1 kg (male), females weigh slightly less than males Ireland
CB285 Miniature Smooth-Haired Dachshund 4.5 kg Germany
CB179 Pembroke Welsh Corgi 25.4-30.5 cm up to 13.6 kg (male), up to 12.7 kg (female) United Kingdom(Wales)
CB196 Pug 25.4-33 cm 6.4-8.2 kg China
CB204 Rhodesian Ridgeback 63.5-68.6 cm (male), 61-66 cm (female) 38.6 kg (male), 31.8 kg (female) Zimbabwe
CB220 Siberian Husky 53.3-61 cm (male), 50.8-55.9 cm (female) 20-27.2 kg (male), 15.9-23.1 kg (female) Russia
CB228 Soft-Coated Wheaten Terrier 45.7-48.3 cm (male), 43.2-45.7 cm (female) 15.9-18.1 kg (male), 13.6-15.9 kg (female) Ireland
CB269 Standard Poodle 56-66 cm
CB257 Wire-Haired Fox Terrier 39 cm 8.25 kg United Kingdom (England)
Associated Gene
There are no associated genes.
References
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.
2021 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 .
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 .
2020 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 .
2020 Santos,C.R.O.,Gouveia,J.J.S.,Gouveia,G.V.,Bezerra,F.C.M.,Nogueira,J.F.,BaraúnaJúnior,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 .
2020 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 .
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 .
2017 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 .
2017 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 .
2016 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 .
2016 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 .
2014 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 .
2014 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 .
2014 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.,VanHaeringen,W.,vandeGoor,L.,Bosmans,T.,Gielen,I.,Saunders,J.H.,Soetaert,S.S.,VanBree,H.,VanNeste,C.,VanNieuwerburgh,F.,VanRyssen,B.,Verelst,E.,VanSteendam,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 .
2013 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 .
2013 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 .
2013 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 .
2013 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 :, 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 .
2012 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 .
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 .
2009 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 .
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 .