A <scp><i>TNR</i></scp> Frameshift Variant in Weimaraner Dogs with an Exercise‐Induced Paroxysmal Movement Disorder

Christen, Matthias; Quintana, R. Gutierrez; Green, M; Faller, Kiterie M E; Lowrie, Mark; Rusbridge, Clare; Bossens, Kenny; Mellersh, Cathryn S.; Pettitt, Louise; Heinonen, Tiina; Lohi, Hannes; Jagannathan, Vidhya; Leeb, Tosso

doi:10.1002/mds.29391

Cited by 3 publications

(1 citation statement)

References 36 publications

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“…Emotional arousal or physical activity was noted as causal for these episodes, and could occur multiple times daily, lasting between 5 and 15 min. A frameshift variant (c.831dupC) in the TNR gene was identified as the plausible causal variant [153].…”

Section: Dyskinesiasmentioning

confidence: 99%

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants

Cocostîrc,

Paștiu,

Pusta

2023

Animals

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Hereditary neurological conditions documented in dogs encompass congenital, neonatal, and late-onset disorders, along with both progressive and non-progressive forms. In order to identify the causal variant of a disease, the main two approaches are genome-wide investigations and candidate gene investigation. Online Mendelian Inheritance in Animals currently lists 418 Mendelian disorders specific to dogs, of which 355 have their likely causal genetic variant identified. This review aims to summarize the current knowledge on the canine nervous system phenes and their genetic causal variant. It has been noted that the majority of these diseases have an autosomal recessive pattern of inheritance. Additionally, the dog breeds that are more prone to develop such diseases are the Golden Retriever, in which six inherited neurological disorders with a known causal variant have been documented, and the Belgian Shepherd, in which five such disorders have been documented. DNA tests can play a vital role in effectively managing and ultimately eradicating inherited diseases.

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Section: Dyskinesiasmentioning

confidence: 99%

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants

Cocostîrc,

Paștiu,

Pusta

2023

Animals

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Clinical characterization of a novel episodic ataxia in young working Cocker Spaniels

Sarró,

Stalin,

Gutierrez‐Quintana

et al. 2024

Veterinary Internal Medicne

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BackgroundEpisodic ataxias (EAs) are a rare group of paroxysmal movement disorders (PMD) described in human medicine with only one suspected case described in veterinary literature.Hypothesis/ObjectivesThis study aimed to provide clinical description of a suspected primary EA in working Cocker Spaniel (WCS) dogs.AnimalsSeven WCS dogs with suspected primary EA.MethodsDescriptive, retrospecitve, multicenter study. Clinical signs, video footage, investigations, treatment, and outcome were reviewed. Owners of affected dogs were invited to complete a questionnaire.ResultsThe mean age at clinical onset was 4 months. Signs were acute and included episodic body swaying, titubation, cerebellar ataxia, wide‐base stance, and hypermetria, all while mentation remained unaltered. Neither autonomic nor vestibular signs nor hyperkinetic movements were observed. Duration of episodes ranged from 30 minutes up to 24 hours, and their frequency varied from weekly to once every 5 months. When investigations were performed, results revealed no abnormalities except for 1 dog that had increased gluten antibody titers. None of the dogs deteriorated, and in dogs with available follow‐up (5/7) the frequency of episodes decreased or completely resolved, from which the majority (4/5) received gluten‐free diet.Conclusion and Clinical ImportanceA novel PMD was identified in young WCS, manifesting as EA. The condition is suspected to have a primary (genetic) etiology, although the cause of this manifestation has not yet been identified. Episodic ataxia in our WCS had a good prognosis. Veterinarians must be aware of this presentation, and further investigations are needed to determine the origin of the clinical signs.

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Canine paroxysmal dyskinesia—a review

Mandigers,

Santifort,

Lowrie

et al. 2024

Front. Vet. Sci.

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Paroxysmal dyskinesias (PDs) are a group of involuntary, hyperkinetic movement disorders that recur episodically and may last seconds to hours. An important feature of PD is that there is no loss of consciousness during the episode. Using a clinical classification, three main types of PDs have been distinguished in canine PD: (1) paroxysmal kinesigenic dyskinesia (PKD) that commences after (sudden) movements, (2) paroxysmal non-kinesigenic dyskinesia (PNKD) not associated with exercise and can occur at rest, and (3) paroxysmal exertion-induced dyskinesia (PED) associated with fatigue. Canine PDs are diagnosed based on the clinical presentation, history, and phenomenology. For the latter, a video recording of the paroxysmal event is extremely useful. An etiological classification of canine PDs includes genetic (proven and suspected), reactive (drug-induced, toxic, metabolic, and dietary), structural (neoplasia, inflammatory, and other structural causes), and unknown causes. In this review, an overview of all reported canine PDs is provided with emphasis on phenotype, genotype, and, where possible, pathophysiology and treatment for each reported canine PD.

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A TNR Frameshift Variant in Weimaraner Dogs with an Exercise‐Induced Paroxysmal Movement Disorder

Cited by 3 publications

References 36 publications

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants

Clinical characterization of a novel episodic ataxia in young working Cocker Spaniels

Canine paroxysmal dyskinesia—a review

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