OMIA 002055-9615 : Degenerative encephalopathy in Canis lupus familiaris

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)

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.

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