Peer-reviewed veterinary case report
Genetic cause of episodic falling syndrome in Cavalier King Charles
By Jennifer L. Gill et al.·Published in Neurobiology of Disease·2012·Department of Pharmacology, The School of Pharmacy, 29-39 Brunswick Square, London WC1N 1AX, UK, US·View original on DOAJ →
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Original publication title: A canine BCAN microdeletion associated with episodic falling syndrome
- Species:
- dog
Plain-English summary
A 3-year-old Cavalier King Charles Spaniel was experiencing episodes of falling, which were triggered by exercise, stress, or excitement. During these episodes, the dog would become stiff and collapse, resembling a 'deer-stalking' position. Researchers identified a genetic deletion linked to this condition, known as episodic falling syndrome (EFS), and developed tests to identify affected dogs and carriers. With this information, breeders can work to reduce the occurrence of EFS in future generations, and affected dogs can receive proper diagnosis and treatment.
People also search for: Cavalier King Charles Spaniel falling episodes · dog stiffness and collapse · episodic falling syndrome treatment
Abstract
Episodic falling syndrome (EFS) is a canine paroxysmal hypertonicity disorder found in Cavalier King Charles spaniels. Episodes are triggered by exercise, stress or excitement and characterized by progressive hypertonicity throughout the thoracic and pelvic limbs, resulting in a characteristic 'deer-stalking' position and/or collapse. We used a genome-wide association strategy to map the EFS locus to a 3.48 Mb critical interval on canine chromosome 7. By prioritizing candidate genes on the basis of biological plausibility, we found that a 15.7 kb deletion in BCAN, encoding the brain-specific extracellular matrix proteoglycan brevican, is associated with EFS. This represents a compelling causal mutation for EFS, since brevican has an essential role in the formation of perineuronal nets governing synapse stability and nerve conduction velocity. Mapping of the deletion breakpoint enabled the development of Multiplex PCR and Multiplex Ligation-dependent Probe Amplification (MLPA) genotyping tests that can accurately distinguish normal, carrier and affected animals. Wider testing of a larger population of CKCS dogs without a history of EFS from the USA revealed that carriers are extremely common (12.9%). The development of molecular genetic tests for the EFS microdeletion will allow the implementation of directed breeding programs aimed at minimizing the number of animals with EFS and enable confirmatory diagnosis and pharmacotherapy of affected dogs.
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Search related cases →Original publication on DOAJ: https://doi.org/10.1016/j.nbd.2011.07.014