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Genetic insights in canine degenerative myelopathy

Fréderique Boeykens (UGent) , Luc Peelman (UGent) , Sofie Bhatti (UGent) and Bart Broeckx (UGent)
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Abstract
Canine degenerative myelopathy (DM) is a late-onset, progressive, neurodegenerative disorder with a fatal outcome, occurring in a vast number of dog breeds. Most dogs are at least eight years of age when they begin to show clinical signs, starting with general proprioceptive ataxia in the hind limbs and upper motor neuron paraparesis, evolving to lower motor neuron tetraplegia and brain stem signs. A definitive diagnosis can only be made postmortem by the histopathological observation of neuronal degradation and demyelination of the spinal cord. Most DM-affected dogs are homozygous for one of the known superoxide dismutase 1 gene (SOD1) mutations (ENSCAFT00000065394.1:c.82G>A, first described as NM_001003035.1:c.118G>A). A second mutation (NM_001003035.1:c.52A>T) in the same gene has been found but occurs only in Bernese mountain dogs. Not every homozygous dog develops the disease; this indicates that the disease is incompletely penetrant and that modifier loci might be present. In this review, the authors aim to give an overview of the disease progression and the current genetic knowledge of DM, which is of paramount importance for the correct diagnosis and to help reduce the disease incidence.
Keywords
NUCLEAR-BODY, MOTOR-NEURONS, SOD1, MUTATIONS, DOGS, ALS, PROTEIN, SP110, GAIN

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MLA
Boeykens, Fréderique, et al. “Genetic Insights in Canine Degenerative Myelopathy.” VLAAMS DIERGENEESKUNDIG TIJDSCHRIFT, vol. 89, no. 5, 2020, pp. 253–61, doi:10.21825/vdt.v89i5.16951.
APA
Boeykens, F., Peelman, L., Bhatti, S., & Broeckx, B. (2020). Genetic insights in canine degenerative myelopathy. VLAAMS DIERGENEESKUNDIG TIJDSCHRIFT, 89(5), 253–261. https://doi.org/10.21825/vdt.v89i5.16951
Chicago author-date
Boeykens, Fréderique, Luc Peelman, Sofie Bhatti, and Bart Broeckx. 2020. “Genetic Insights in Canine Degenerative Myelopathy.” VLAAMS DIERGENEESKUNDIG TIJDSCHRIFT 89 (5): 253–61. https://doi.org/10.21825/vdt.v89i5.16951.
Chicago author-date (all authors)
Boeykens, Fréderique, Luc Peelman, Sofie Bhatti, and Bart Broeckx. 2020. “Genetic Insights in Canine Degenerative Myelopathy.” VLAAMS DIERGENEESKUNDIG TIJDSCHRIFT 89 (5): 253–261. doi:10.21825/vdt.v89i5.16951.
Vancouver
1.
Boeykens F, Peelman L, Bhatti S, Broeckx B. Genetic insights in canine degenerative myelopathy. VLAAMS DIERGENEESKUNDIG TIJDSCHRIFT. 2020;89(5):253–61.
IEEE
[1]
F. Boeykens, L. Peelman, S. Bhatti, and B. Broeckx, “Genetic insights in canine degenerative myelopathy,” VLAAMS DIERGENEESKUNDIG TIJDSCHRIFT, vol. 89, no. 5, pp. 253–261, 2020.
@article{8660099,
  abstract     = {{Canine degenerative myelopathy (DM) is a late-onset, progressive, neurodegenerative disorder with a fatal outcome, occurring in a vast number of dog breeds. Most dogs are at least eight years of age when they begin to show clinical signs, starting with general proprioceptive ataxia in the hind limbs and upper motor neuron paraparesis, evolving to lower motor neuron tetraplegia and brain stem signs. A definitive diagnosis can only be made postmortem by the histopathological observation of neuronal degradation and demyelination of the spinal cord. Most DM-affected dogs are homozygous for one of the known superoxide dismutase 1 gene (SOD1) mutations (ENSCAFT00000065394.1:c.82G>A, first described as NM_001003035.1:c.118G>A). A second mutation (NM_001003035.1:c.52A>T) in the same gene has been found but occurs only in Bernese mountain dogs. Not every homozygous dog develops the disease; this indicates that the disease is incompletely penetrant and that modifier loci might be present. In this review, the authors aim to give an overview of the disease progression and the current genetic knowledge of DM, which is of paramount importance for the correct diagnosis and to help reduce the disease incidence.}},
  author       = {{Boeykens, Fréderique and Peelman, Luc and Bhatti, Sofie and Broeckx, Bart}},
  issn         = {{0303-9021}},
  journal      = {{VLAAMS DIERGENEESKUNDIG TIJDSCHRIFT}},
  keywords     = {{NUCLEAR-BODY,MOTOR-NEURONS,SOD1,MUTATIONS,DOGS,ALS,PROTEIN,SP110,GAIN}},
  language     = {{eng}},
  number       = {{5}},
  pages        = {{253--261}},
  title        = {{Genetic insights in canine degenerative myelopathy}},
  url          = {{http://dx.doi.org/10.21825/vdt.v89i5.16951}},
  volume       = {{89}},
  year         = {{2020}},
}

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