ArticleCanine genetics and epidemiology2014
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.
Article in Canine genetics and epidemiology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 24 citations in OpenAlex.
- Breed Distribution of the Superoxide Dismutase 1 Gene Polymorphism Associated With Degenerative Myelopathy in a Canine Population From Different Geographical Regions of Türkiye.Veterinary medicine and science · 2026Article
- Allele and genotype frequencies of the SOD1 c.118G>A mutation associated with degenerative myelopathy in Boxer and Pit Bull Terrier dogs from Uruguay.Brazilian journal of veterinary medicine · 2026Article
- SOD1:c.118G>A mutation in the Cimarrón Uruguayo dog: prevalence, drift dynamics, and structural effects.Brazilian journal of veterinary medicine · 2026Article
- Frequency of superoxide dismutase 1 c.118: G>A mutation associated with canine degenerative myelopathy in German Shepherd dogs from Uruguay and Paraguay.Veterinary world · 2024Article
- Genotypic and Allelic Frequencies of Degenerative Myelopathy in an Italian Canine Population.Animals : an open access journal from MDPI · 2024Article
- Exosomal TAR DNA binding protein 43 profile in canine model of amyotrophic lateral sclerosis: a preliminary study in developing blood-based biomarker for neurodegenerative diseases.Annals of medicine · 2023Article
- Molecular Surveillance of Canine Degenerative Myelopathy in Breeding Kennels from Romania.Animals : an open access journal from MDPI · 2023Article
- Intensive neurorehabilitation and allogeneic stem cells transplantation in canine degenerative myelopathy.Frontiers in veterinary science · 2023Article
- Molecular Epidemiological Survey for Degenerative Myelopathy in German Shepherd Dogs in Japan: Allele Frequency and Clinical Progression Rate.Animals : an open access journal from MDPI · 2022Article
- Allele and genotype frequencies of theVeterinary world · 2021Article
- In vivo detection of microstructural spinal cord lesions in dogs with degenerative myelopathy using diffusion tensor imaging.Journal of veterinary internal medicine · 2021Article
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- Demography and disorders of German Shepherd Dogs under primary veterinary care in the UK.Canine genetics and epidemiology · 2017Article
- Integrating Genomic Data Sets for Knowledge Discovery: An Informed Approach to Management of Captive Endangered Species.International journal of genomics · 2016Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCanine degenerative myelopathy (CDM) is an adult onset, progressive neurodegenerative disease of the spinal cord. The disease was originally described in the German Shepherd dog (GSD), but it is now known to occur in many other dog breeds. A previous study has identified a mutation in the superoxide dismutase 1 gene (SOD1:c.118G > A) that is associated with susceptibility to CDM. In the present study, restriction fragment length polymorphism (RFLP) analysis was used to genotype GSD for SOD1:c.118G > A in order to estimate the prevalence of the mutation in a referral population of GSD in the UK.
resultsThis study demonstrated that the RFLP assay, based on use of PCR and subsequent digestion with the Eco571 enzyme, provided a simple genotyping test for the SOD1:c.118G > A mutation. In a young GSD population (i.e. dogs less than 6 years of age, before clinical signs of the disease usually become apparent), 8 of 50 dogs were found to be homozygous and a further 19 were heterozygous for the mutation. In dogs over 8 years of age, 21 of 50 dogs admitted to a tertiary referral hospital with pelvic limb ataxia as a major clinical sign were homozygous for the mutation, compared to none of 50 dogs of similar age, but where no neurological disease was reported on referral.
conclusionsThis data suggests that genotyping for the SOD1:c.118G > A mutation is clinically applicable and that the mutation has a high degree of penetrance. Genotyping might also be useful for screening the GSD population to avoid mating of two carriers, but since the allele frequency is relatively high in the UK population of GSD, care should be taken to avoid reduction in genetic diversity within the breed.
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