ArticleGenes2020
Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED).
Article in Genes, 2020. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
14 citing papers in PubMed, 18 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
- Suspected paroxysmal dyskinesia in four small-breed dogs: Clinical presentation, diagnosis, management and prognosis.Veterinary medicine and science · 2024Article
- High-fat diet disrupts the gut microbiome, leading to inflammation, damage to tight junctions, and apoptosis and necrosis in Nyctereutes procyonoides intestines.Microbiology spectrum · 2024Article
- Canine paroxysmal dyskinesia-a review.Frontiers in veterinary science · 2024Review
- Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy.HGG advances · 2023Article
- Emotional Arousal Impacts Physical Health in Dogs: A Review of Factors Influencing Arousal, with Exemplary Case and Framework.Animals : an open access journal from MDPI · 2023Review
- Long-term nutritional management of an obese German Spitz with paroxysmal dyskinesia, calcium oxalate urolithiasis, and suspected pancreatitis-A case report.Frontiers in veterinary science · 2023Article
- Phenotypic characterisation of paroxysmal dyskinesia in Sphynx cats.Journal of feline medicine and surgery · 2022Article
- A novel mutation inAging · 2021Article
- International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification.Journal of veterinary internal medicine · 2021Article
- Levetiracetam-responsive paroxysmal exertional dyskinesia in a Welsh Terrier.Journal of veterinary internal medicine · 2021Article
- Development of a Novel Epilepsy and Dyskinesia Survey for Large-Scale Characterization of Seizure Semiology in Dogs.Journal of veterinary internal medicineArticle
- Investigation of the presence of specific neural antibodies in dogs with epilepsy or dyskinesia using murine and human assays.Journal of veterinary internal medicineArticle
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Four female Shetland Sheepdogs with hypertonic paroxysmal dyskinesia, mainly triggered by exercise and stress, were investigated in a retrospective multi-center investigation aiming to characterize the clinical phenotype and its underlying molecular etiology. Three dogs were closely related and their pedigree suggested autosomal dominant inheritance. Laboratory diagnostic findings included mild lactic acidosis and lactaturia, mild intermittent serum creatine kinase (CK) elevation and hypoglycemia. Electrophysiological tests and magnetic resonance imaging of the brain were unremarkable. A muscle/nerve biopsy revealed a mild type II fiber predominant muscle atrophy. While treatment with phenobarbital, diazepam or levetiracetam did not alter the clinical course, treatment with a gluten-free, home-made fresh meat diet in three dogs or a tryptophan-rich, gluten-free, seafood-based diet, stress-reduction, and acetazolamide or zonisamide in the fourth dog correlated with a partial reduction in, or even a complete absence of, dystonic episodes. The genomes of two cases were sequenced and compared to 654 control genomes. The analysis revealed a case-specific missense variant, c.1658G>A or p.Arg553Gln, in the
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.