Peer-reviewed veterinary case report
Genetic cause of spinocerebellar ataxia in Alpine Dachsbracke dogs
By Letko, Anna et al.·Published in Genes·2019·Institute of Genetics·View original on PubMed →
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Original publication title: A Missense Variant inin Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia.
- Species:
- dog
Plain-English summary
A group of Alpine Dachsbracke dogs showed symptoms of ataxia, which includes tremors and loss of balance. Researchers found a genetic variant that likely causes this condition by studying two related litters with affected dogs. They identified a specific change in a gene that is known to be linked to similar issues in humans and other animals. This genetic variant was confirmed in over 200 dogs, suggesting it is a common cause of the problem in this breed. Unfortunately, there is no cure for this hereditary condition, but knowing the cause can help owners manage their dogs' symptoms.
People also search for: Alpine Dachsbracke ataxia symptoms · dog loss of balance treatment · hereditary dog tremors
Abstract
Spinocerebellar ataxias is an umbrella term for clinically- and neuropathologically-heterogeneous early-onset hereditary neurodegenerative diseases affecting several dog breeds. The purpose of this study is to identify the causative genetic variant associated with ataxia, tremor, and loss of balance in Alpine Dachsbracke dogs. We investigated two related litters in which four cases were reported. Neuropathology of two dogs revealed spongy degeneration associated with axonal degeneration. Combined genetic linkage and autozygosity analyses in four cases and eight related controls showed one critical disease-associated interval on chromosomes 27. Private whole-genome sequence variants of one ataxia case against 600 unrelated controls revealed one protein-changing variant within the critical interval in thegene (c.4898G>T; p.Gly1633Val). Perfect segregation with the phenotype was confirmed by genotyping >200 Alpine Dachsbracke dogs.encodes a voltage-gated sodium channel and the missense variant was predicted deleterious by three different in silico prediction tools. Pathogenic variants inwere previously reported in humans with ataxia, pancerebellar atrophy, and cognitive disability. Furthermore, cerebellar ataxia syndrome in the 'jolting' mutant mice is caused by a missense variant in. Therefore, we considered thec.4898G>T variant to be the most likely cause for recessively inherited spinocerebellar ataxia in Alpine Dachsbracke dogs.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/31083464/