Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia.

Autor: Vanhaesebrouck A; Queen's Veterinary School Hospital, Cambridge University, Cambridge, UK., Van Poucke M; Department of Veterinary and Biosciences, Faculty of Veterinary Sciences, Ghent University, Merelbeke, Belgium., Stee K; Small Animal Department, Faculty of Veterinary Sciences, Ghent University, Merelbeke, Belgium., Granger N; Bristol Vet Specialists, CVS Referrals, Bristol, UK., Ives E; Anderson Moores Veterinary Specialists, Winchester, UK., Van Soens I; Companion Animal Clinic, Department of Clinical Sciences, Faculty of Veterinary Medicine, University of Liège, Liege, Belgium., Cornelis I; Small Animal Department, Faculty of Veterinary Sciences, Ghent University, Merelbeke, Belgium., Bossens K; Orion Veterinary Clinic, Herentals, Belgium., Peelman L; Department of Veterinary and Biosciences, Faculty of Veterinary Sciences, Ghent University, Merelbeke, Belgium., Van Ham L; Small Animal Department, Faculty of Veterinary Sciences, Ghent University, Merelbeke, Belgium., Bhatti SFM; Small Animal Department, Faculty of Veterinary Sciences, Ghent University, Merelbeke, Belgium.
Jazyk: angličtina
Zdroj: Journal of veterinary internal medicine [J Vet Intern Med] 2023 Nov-Dec; Vol. 37 (6), pp. 2310-2314. Date of Electronic Publication: 2023 Oct 31.
DOI: 10.1111/jvim.16892
Abstrakt: Background: KCNJ10 and CAPN1 variants cause "spinocerebellar" ataxia in dogs, but their association with generalized myokymia and neuromyotonia remains unclear.
Objective: To investigate the association between KCNJ10 and CAPN1 and myokymia or neuromyotonia, with or without concurrent spinocerebellar ataxia.
Animals: Thirty-three client-owned dogs with spinocerebellar ataxia, myokymia neuromytonia, or a combination of these signs.
Methods: Genetic analysis of a cohort of dogs clinically diagnosed with spinocerebellar ataxia, myokymia or neuromyotonia. KCNJ10 c.627C>G and CAPN1 c.344G>A variants and the coding sequence of KCNA1, KCNA2, KCNA6, KCNJ10 and HINT1 were sequenced using DNA extracted from blood samples.
Results: Twenty-four Jack Russell terriers, 1 Jack Russell terrier cross, 1 Dachshund and 1 mixed breed with spinocerebellar ataxia were biallelic (homozygous) for the KCNJ10 c.627C>G variant. Twenty-one of those dogs had myokymia, neuromyotonia, or both. One Parson Russell terrier with spinocerebellar ataxia alone was biallelic for the CAPN1 c.344G>A variant. Neither variant was found in 1 Jack Russell terrier with ataxia alone, nor in 3 Jack Russell terriers and 1 Yorkshire terrier with myokymia and neuromyotonia alone. No other causal variants were found in the coding sequence of the investigated candidate genes in these latter 5 dogs.
Conclusion: The KCNJ10 c.627C>G variant, or rarely the CAPN1 c.344G>A variant, was confirmed to be the causal variant of spinocerebellar ataxia. We also report the presence of the KCNJ10 c.627C>G variant in the Dachshund breed. In dogs with myokymia and neuromyotonia alone the reported gene variants were not found. Other genetic or immune-mediated causes should be investigated to explain the clinical signs of these cases.
(© 2023 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine.)
Databáze: MEDLINE
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