Peer-reviewed veterinary case report
Genetic mutation causes severe movement disorder in Markiesje puppies
By Mandigers, P J J et al.·Published in Human genetics·2021·Department of Clinical Sciences, Netherlands·View original on PubMed →
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Original publication title: A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy.
- Species:
- dog
Plain-English summary
A group of young Markiesje dogs showed severe symptoms like weakness in all four legs, muscle spasms, and falling over when trying to walk. Unfortunately, most of these affected puppies got worse quickly, leading to the heartbreaking decision of euthanasia. Researchers found that this condition was linked to a specific genetic mutation on chromosome 31, which was inherited in an autosomal recessive manner. This mutation is similar to those causing other neurological diseases in both dogs and humans. Sadly, there is currently no effective treatment for this condition, and affected dogs typically do not recover.
People also search for: Markiesje dog weakness · juvenile paroxysmal dyskinesia in dogs · dog falling over when walking · genetic disorders in dogs
Abstract
A juvenile form of paroxysmal dyskinesia segregated in the Markiesje dog breed. Affected pups exhibited clinical signs of a severe tetraparesis, dystonia, cramping and falling over when trying to walk. In most cases, the presentation deteriorated within weeks and elective euthanasia was performed. Pedigree analysis indicated autosomal recessive inheritance. Genome-wide association and homozygosity mapping of 5 affected dogs from 3 litters identified the associated locus on chromosome 31 in the region of SOD1. The DNA sequence analysis of SOD1 showed that the patients were homozygous for a frameshift mutation in the fourth codon. None of the other analyzed dogs of the breed was homozygous for the mutation, indicating full penetrance of the genetic defect. Mutations in SOD1 are known to cause recessive degenerative myelopathy in middle-aged dogs with low penetrance and dominant amyotrophic lateral sclerosis in humans with variable age of onset. Our findings are similar to recent observations in human patients that a loss of function mutation in SOD1 leads to a juvenile neurologic disease distinct from amyotrophic lateral sclerosis.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/33677640/