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

  title={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},
  author={Angela Holder and James A. Price and Jamie P Adams and Holger Andreas Volk and Brian Catchpole},
  journal={Canine Genetics and Epidemiology},
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… 
Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil
This is the first attempt to describe the presence of the “A” allele associated with CDM (SOD1:c.118G > A) in German Shepherd dogs in Brazil and, as such, these results contribute toward important epidemiological data in this country and to the knowledge of the distribution of the aforementioned mutation worldwide.
Allele and genotype frequencies of the SOD1 gene polymorphism associated with canine degenerative myelopathy in Belgian Malinois dogs in Greece
The frequency of heterozygous animals indicates that a high risk of developing CDM in forthcoming generations exists in the tested population, and a case-control study on animals with evidence of sensitivity to infectious myelopathy could provide new insights into disease pathogenesis.
Molecular Epidemiological Survey for Degenerative Myelopathy in German Shepherd Dogs in Japan: Allele Frequency and Clinical Progression Rate
Results, further genotyping, and thorough clinical examinations of SOD1 A/A risk genotype will help control and prevent DM in the Japanese GSD population.
Hereditary myelopathies in dogs
Canine degenerative myelopathy (DM) is a progressive disease prevalent in senior (≥8 years old), large breed-dogs, predominating in German shepherd dog and a genetic test for DM exists, which will aid breeding programs to eliminate the disease.
The DNA test is a commercially available tool to help breeders avoid producing CDM “at risk” offspring what significantly reduces the frequency of mutated alleles in future generations.
A genetic study of a SOD1 missense mutation in Czechoslovakian Wolfdog
This study screened the Czechoslovakian Wolfdog population for the causative degenerative myelopathy mutation E40K in order to estimate its prevalence in Slovakia and confirmed that the frequency of the mutant allele A (0.25) is relatively high and genetic testing is important in breeding programs.
Clinical reasoning in canine spinal disease: what combination of clinical information is useful?
It is suggested that most spinal diseases cause distinctive combinations of presenting clinical parameters (signalment, onset, deterioration, pain, asymmetry, neuroanatomical localisation) and taking particular account of these parameters may aid decision making in a clinical setting.
An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland
A substantial number of working dogs were shown to be at risk for genetic conditions that may shorten the dog's career.
Clinical reasoning in feline spinal disease: which combination of clinical information is useful?
Using easily identifiable characteristics from the history and clinical examination can assist in obtaining a preliminary differential diagnosis when evaluating cats with spinal disease, and could aid veterinary practitioners in clinical decision-making.
Exosome TDP-43 profile in canine model of ALS: A preliminary study in developing surrogate biomarker
Levels of spinal cord TDP-43 and serum-derived exomes were similar in T DP-43 profiling, which warrant further investigation of disease sensitivity and specificity for establishing as a blood-based biomarker in canine DM.


Degenerative myelopathy in German Shepherd Dog: comparison of two molecular assays for the identification of the SOD1:c.118G>A mutation
The aims of the present study were to develop a tool for the rapid screening of the SOD1 mutation site in dogs and to evaluate the association of the polymorphism with DM in the German Shepherd breed.
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.
Genotyping assays using conventional and real-time PCR methods were developed, and a preliminary genotyping survey was performed on 122 randomly selected Pembroke Welsh Corgis without any degenerative myelopathy-related clinical signs to determine the current allele frequency in Japan, indicating that the prevalence of the mutant A allele is extremely high in Japan.
Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy
The updated clinical conditions of dogs from which samples were obtained with a relatively low ascertainment bias suggest that S OD1:c.118A homozygotes are at a much higher risk of developing degenerative myelopathy than are SOD1: c.52T heterozygotes, which is widespread and common among privately owned dogs whereas the SOD said to be limited to Bernese Mountain Dogs.
Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis
These findings identify canine DM to be the first recognized spontaneously occurring animal model for ALS.
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
Tight genetic linkage between FALS and a gene that encodes a cytosolic, Cu/Zn-binding superoxide dismutase (SOD1), a homodimeric metalloenzyme that catalyzes the dismutation of the toxic superoxide anion O–2 to O2 and H2O2 is reported.
Clinical characterization of a familial degenerative myelopathy in Pembroke Welsh Corgi dogs.
Clinical progression of FDM in PWC dogs was similar to that observed in other breeds but characterized by a longer duration, and pedigree analysis suggested a familial disease.
Canine degenerative myelopathy.
  • J. CoatesF. Wininger
  • Medicine, Biology
    The Veterinary clinics of North America. Small animal practice
  • 2010
Daily controlled physiotherapy increases survival time in dogs with suspected degenerative myelopathy.
Results indicate that affected dogs which received physiotherapy remained ambulatory longer than did animals that did not receive physical treatment, and a significant breed predisposition for the German Shepherd Dog, Kuvasz, Hovawart, and Bernese Mountain Dog is found.
German Shepherd dog myelopathy--a morphologic and morphometric study.
The concept that a degenerative neurologic disease in German Shepherd Dogs (designated "German Shepherd Dog myelopathy") represents a dying-back disease process was not substantiated by morphologic