Rawson, Faye; Christen, Matthias; Rose, Jeremy; Paran, Emilie; Leeb, Tosso; Fadda, Angela (2024). Polioencephalopathy in Eurasier dogs. Journal of veterinary internal medicine, 38(1), pp. 277-284. Wiley 10.1111/jvim.16945
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BACKGROUND
Polioencephalopathies secondary to inborn errors of metabolism have been described in dogs, but few genetically characterized.
OBJECTIVES
Clinically and genetically characterize polioencephalopathy in a family of Eurasier dogs.
ANIMALS
Three Eurasier dogs (littermates) presented with early onset movement disorders (9 weeks in 2, 4-6 months in 1). Progressive gait abnormalities were detected in 2 of the dogs, persistent divergent strabismus in 1, whereas consciousness and behavior remained intact in all dogs. One dog was euthanized at 25 months.
METHODS
Video footage was assessed in all dogs, and Dogs 1 and 2 had examinations and investigations performed. Whole genome sequencing of Dog 1 and further genetic analyses in the family were performed. A cohort of 115 Eurasier controls was genotyped for specific variants.
RESULTS
Episodes were characterized by generalized ataxia, as well as a hypermetric thoracic limb gait, dystonia, and irregular flexion and extension movements of the thoracic limbs. Magnetic resonance imaging of the brain in Dogs 1 and 2 identified symmetrical, bilateral T2 and fluid attenuated inversion recovery hyperintense, T1 hypo to isointense, nonenhancing lesions of the caudate nucleus, lateral and medial geniculate nuclei, thalamus, hippocampus, rostral colliculus and mild generalized brain atrophy. Genetic analyses identified a homozygous mitochondrial trans-2-enoyl-CoA reductase (MECR) missense variant in all 3 dogs, and a homozygous autophagy-related gene 4D (ATG4D) missense variant in Dogs 1 and 2.
CONCLUSIONS AND CLINICAL IMPORTANCE
We describe a presumed hereditary and progressive polioencephalopathy in a family of Eurasier dogs. Further research is needed to establish the role of the MECR gene in dogs and the pathogenic effects of the detected variants.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
09 Interdisciplinary Units > Next Generation Sequencing (NGS) Platform 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) |
Graduate School: |
Graduate School for Cellular and Biomedical Sciences (GCB) |
UniBE Contributor: |
Christen, Matthias (A), Leeb, Tosso |
Subjects: |
500 Science > 570 Life sciences; biology 500 Science > 590 Animals (Zoology) 600 Technology > 610 Medicine & health |
ISSN: |
1939-1676 |
Publisher: |
Wiley |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
04 Dec 2023 11:24 |
Last Modified: |
23 Jan 2024 09:45 |
Publisher DOI: |
10.1111/jvim.16945 |
PubMed ID: |
38041431 |
Uncontrolled Keywords: |
canine movement disorder neurodegenerative polioencephalopathy |
BORIS DOI: |
10.48350/189787 |
URI: |
https://boris.unibe.ch/id/eprint/189787 |
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