OMIA:002055-9615 : Degenerative encephalopathy in Canis lupus familiaris (dog)

Categories: Nervous system phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

History: This disorder was first described by Barker et al. (2016)

Inheritance: "Genealogical analysis supports an autosomal recessive mode of inheritance." (Barker et al., 2016)

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: As summarised by Barker et al. (2016): "Clinical signs of neurological dysfunction began between 2 months and 5 years of age and were progressive in nature. They were characterized by episodes of marked movements during sleep, increased anxiety, noise phobia, and gait abnormalities. Magnetic resonance imaging documented symmetrical, progressively increasing, T2‐weighted image intensity, predominantly within the caudate nuclei, consistent with necrosis secondary to gray matter degeneration. Abnormalities were not detected on clinicopathological analysis of blood and cerebrospinal fluid, infectious disease screening or urine metabolite screening in most cases. Postmortem examination of brain tissue identified symmetrical malacia of the caudate nuclei and axonal dystrophy within the brainstem and spinal cord."

Breed: Nova Scotia Duck Tolling Retriever (Dog) (VBO_0200964).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2016). OMIA:002055-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2016 Barker, E.N., Dawson, L.J., Rose, J.H., Van Meervenne, S., Frykman, O., Rohdin, C., Leijon, A., Soerensen, K.E., Järnegren, J., Johnson, G.C., O'Brien, D.P., Granger, N. :
Degenerative encephalopathy in Nova Scotia Duck Tolling Retrievers presenting with a rapid eye movement sleep behavior disorder. J Vet Intern Med 30:1681-1689, 2016. Pubmed reference: 27717189. DOI: 10.1111/jvim.14575.

Edit History


  • Created by Frank Nicholas on 17 Oct 2016
  • Changed by Frank Nicholas on 17 Oct 2016