ArticleHuman genetics2021
A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy.
Article in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 14 citations in OpenAlex.
- Phenotypic features of paroxysmal dyskinesia in Dachshund dogs: 62 cases (2017-2025).Journal of veterinary internal medicine · 2026Article
- Canine paroxysmal dyskinesia: distribution of etiological subtypes and structural and reactive causes in a retrospective tertiary care cohort.Frontiers in veterinary science · 2026Article
- Phenotypic characterisation, quality of life and prevalence of idiopathic epilepsy and epilepsy of unknown cause in the nine Dutch dog breeds.Frontiers in veterinary science · 2026Article
- Myotonia Congenita in Australian Merino Sheep with a Missense Variant inAnimals : an open access journal from MDPI · 2024Article
- Suspected paroxysmal dyskinesia in four small-breed dogs: Clinical presentation, diagnosis, management and prognosis.Veterinary medicine and science · 2024Article
- Canine paroxysmal dyskinesia-a review.Frontiers in veterinary science · 2024Review
- An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.Animals : an open access journal from MDPI · 2023Review
- Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.Genome medicine · 2023Article
- The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1.Brain communications · 2023Article
- Dog-human translational genomics: state of the art and genomic resources.Journal of applied genetics · 2022Review
- Dystonia in veterinary neurology.Journal of veterinary internal medicine · 2022Review
- Phenotypic characterisation of paroxysmal dyskinesia in Sphynx cats.Journal of feline medicine and surgery · 2022Article
- Article
- Development of a Novel Epilepsy and Dyskinesia Survey for Large-Scale Characterization of Seizure Semiology in Dogs.Journal of veterinary internal medicineArticle
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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