Peer-reviewed veterinary case report
Jack Russell Terriers with ataxia, seizures linked to KCNJ10 gene
By Gilliam, D et al.·Published in Journal of veterinary internal medicine·2014·Department of Veterinary Pathobiology·View original on PubMed →
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Original publication title: A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both.
- Species:
- dog
Plain-English summary
A group of Jack Russell Terriers and related breeds were found to have a genetic mutation linked to spinocerebellar ataxia, which can cause symptoms like unsteady movements, muscle twitching (myokymia), and seizures. This mutation was identified in dogs as young as 2 months old and was associated with varying degrees of these neurological issues. By pinpointing the specific gene mutation (KCNJ10), veterinarians can now offer a DNA test to help identify affected dogs and their carriers. This discovery helps clarify the different forms of ataxia in these breeds and can guide treatment options.
People also search for: Jack Russell Terrier seizures · dog ataxia symptoms · spinocerebellar ataxia in dogs · KCNJ10 mutation testing for dogs
Abstract
BACKGROUND: Juvenile-onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years. Ataxia occurs with varying combinations of myokymia, seizures, and other signs of neurologic disease. More than 1 form of the disease has been suspected. HYPOTHESIS/OBJECTIVES: The objective was to identify the mutation causing the spinocerebellar ataxia associated with myokymia, seizures, or both and distinguish the phenotype from other ataxias in the RGTs. ANIMALS: DNA samples from 16 RGTs with spinocerebellar ataxia beginning from 2 to 12 months of age, 640 control RGTs, and 383 dogs from 144 other breeds along with the medical records of affected dogs were studied. METHODS: This case-control study compared the frequencies of a KCNJ10 allele in RGTs with spinocerebellar ataxia versus control RGTs. This allele was identified in a whole-genome sequence of a single RGT with spinocerebellar ataxia and myokymia by comparison to whole-genome sequences from 81 other canids that were normal or had other diseases. RESULTS: A missense mutation in the gene coding for the inwardly rectifying potassium channel Kir4.1 (KCNJ10:c.627C>G) was significantly (P < .001) associated with the disease. Dogs homozygous for the mutant allele all had spinocerebellar ataxia with varying combinations of myokymia and seizures. CONCLUSIONS AND CLINICAL IMPORTANCE: Identification of the KCNJ10 mutation in dogs with spinocerebellar ataxia with myokymia, seizures, or both clarifies the multiple forms of ataxia seen in these breeds and provides a DNA test to identify carriers.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/24708069/