ArticleJournal of veterinary internal medicine2021
A retrospective case series of clinical signs in 28 Beagles with Lafora disease.
Article in Journal of veterinary internal medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness.Epilepsy & behavior : E&B · 2025Article
- Spontaneous late-onset myoclonic epilepsy in cats: 15 cases (2015-2023).Journal of feline medicine and surgery · 2025Article
- A diffusion tensor imaging white matter atlas of the domestic canine brain.Imaging neuroscience (Cambridge, Mass.) · 2024Article
- Article
- Magnetic resonance imaging pattern recognition of metabolic and neurodegenerative encephalopathies in dogs and cats.Frontiers in veterinary science · 2024Article
- Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts.Journal of biosciences · 2024Review
- Electroencephalography: electrode arrays in dogs.Frontiers in veterinary science · 2024Review
- Polyglucosan body disease in an aged chimpanzee (Pan troglodytes).Neuropathology : official journal of the Japanese Society of Neuropathology · 2023Article
- An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.Animals : an open access journal from MDPI · 2023Review
- Dogs as a Natural Animal Model of Epilepsy.Frontiers in veterinary science · 2022Review
- A retrospective case series of clinical signs in 28 Beagles with Lafora disease.Journal of veterinary internal medicine · 2021Article
- Characteristics and clinical course of myoclonus in Cavalier King Charles Spaniels.Journal of veterinary internal medicineArticle
- Identification of a novel RBCK1 splice site donor variant in Basset Hounds with glycogen storage disease myopathy.Molecular genetics and metabolismArticle
Corrections and comments
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Authors and funding
15 authors at 9 institutions in 6 countries.
Funding
Abstract
backgroundClinical signs and their progression in Beagles with Lafora disease are poorly described.
objectivesTo describe clinical signs in Beagles with Lafora disease. ANIMALS: Twenty-eight Beagles with Lafora disease confirmed by genetic testing or histopathology.
methodsRetrospective multicenter case series. Data regarding signalment, clinical signs, diagnostic tests and treatment were retrieved from hospital data files. A questionnaire was sent to owners asking about neurological deficits, changes in cognitive functions, behavioral changes, response to treatment and survival time.
resultsOnset of clinical signs was 8.3 years (mean; range, 6.3-13.3). All dogs had myoclonic episodes as an initial clinical sign with tonic-clonic seizures in n = 11/28 (39%) and n = 12/28 (43%) later developing tonic-clonic seizures. Deficits of coordination (n = 21/25; 84%), impaired vision (n = 15/26; 58%), and impaired hearing (n = 13/26; 50%) developed later. Mental decline was observed as loss of house training (urination; n = 8/25; 32%), difficulties performing learned tasks (n = 9/25; 36%), and difficulties learning new tasks (n = 7/23; 30%). Common behavioral changes were: increased photosensitivity (n = 20/26; 77%), staring into space (n = 16/25; 64%), reduced stress resistance (n = 15/26; 58%), increased noise sensitivity (n = 14/26; 54%), and separation anxiety (n = 11/25; 44%). Twenty-one dogs were alive (median age 11.9 years; range, 9.8-18.6), and 7 dogs were dead (mean age 12.1 years; SD: 1.3; range, 10.5-12.6) at time of writing. CONCLUSIONS AND CLINICAL IMPORTANCE: Lafora disease in Beagles causes significant behavioral changes, and mental decline as well as neurological deficits in addition to myoclonic episodes and generalized tonic-clonic seizures. Nevertheless, a relatively normal life span can be expected.
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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.