Peer-reviewed veterinary case report
Genetic region linked to cerebellar abiotrophy in Australian Kelpies
By Shearman, J R et al.·Published in Animal genetics·2011·School of Biotechnology and Biomolecular Sciences, United Kingdom·View original on PubMed →
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Original publication title: Mapping cerebellar abiotrophy in Australian Kelpies.
- Species:
- dog
Plain-English summary
A group of Australian Kelpie dogs with a genetic condition called cerebellar abiotrophy showed symptoms like unsteady movements (ataxia) and tremors. Researchers studied the dogs' DNA to find the cause but didn't identify a specific mutation linked to the disease. However, they did find a region on chromosome 3 that all affected dogs shared, suggesting it might be related to the condition. Unfortunately, none of the genes in that area are known to cause ataxia, so more research is needed to understand this issue better.
People also search for: Australian Kelpie ataxia symptoms · dog tremors treatment · cerebellar abiotrophy in dogs
Abstract
An autosomal recessive form of cerebellar abiotrophy occurs in Australian Kelpie dogs. Clinical signs range from mild ataxia with intention tremor to severe ataxia with seizures. A whole-genome mapping analysis was performed using Affymetrix Canine SNP array v2 on 11 affected and 19 control dogs, but there was no significant association with disease. A homozygosity analysis identified a three megabase region likely to contain the disease mutation. The region spans 29.8-33 Mb on chromosome 3, for which all affected dogs were homozygous for a common haplotype. Microsatellite markers were developed in the candidate region for linkage analysis that resulted in a logarithm of odds score suggestive of linkage. The candidate region contains 29 genes, none of which are known to cause ataxia.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/22035013/