ArticleNeurogenetics2017
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.
Article in Neurogenetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 27 citations in OpenAlex.
- Presumptive paroxysmal dyskinesia in 41 dogs: is the diet change enough?Journal of veterinary internal medicine · 2026Article
- 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
- 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
- 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
- Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report.BMC pediatrics · 2022Article
- A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy.Human genetics · 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
- Article
- Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED).Genes · 2020Article
- Phenotypic characterization of paroxysmal dyskinesia in Maltese dogs.Journal of veterinary internal medicine · 2020Article
- Companion animal models of neurological disease.Journal of neuroscience methods · 2020Review
- A cross-species approach to disorders affecting brain and behaviour.Nature reviews. Neurology · 2018Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary paroxysmal dyskinesias (PxD) are a heterogeneous group of movement disorders classified by frequency, duration, and triggers of the episodes. A young-adult onset canine PxD has segregated as an autosomal recessive trait in Soft-Coated Wheaten Terriers. The medical records and videos of episodes from 25 affected dogs were reviewed. The episodes of hyperkinesia and dystonia lasted from several minutes to several hours and could occur as often as >10/day. They were not associated with strenuous exercise or fasting but were sometimes triggered by excitement. The canine PxD phenotype most closely resembled paroxysmal non-kinesigenic dyskinesia (PNKD) of humans. Whole genome sequences were generated with DNA from 2 affected dogs and analyzed in comparison to 100 control canid whole genome sequences. The two whole genome sequences from dogs with PxD had a rare homozygous PIGN:c.398C > T transition, which predicted the substitution of an isoleucine for a highly conserved threonine in the encoded enzyme. All 25 PxD-affected dogs were PIGN:c.398T allele homozygotes, whereas there were no c.398T homozygotes among 1185 genotyped dogs without known histories of PxD. PIGN encodes an enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors a variety of proteins including CD59 to the cell surface. Flow cytometry of PIGN-knockout HEK239 cells expressing recombinant human PIGN with the c.398T variant showed reduced CD59 expression. Mutations in human PIGN have been associated with multiple congenital anomalies-hypotonia-seizures syndrome-1 (MCAHS1). Movement disorders can be a part of MCAHS1, but this is the first PxD associated with altered GPI anchor function.
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