Peer-reviewed veterinary case report
Cerebellar abiotrophy genetic risk in Australian working Kelpies
By Wade, Claire M et al.·Published in Genes·2022·School of Life and Environmental Sciences, Australia·View original on PubMed →
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Original publication title: Cerebellar Abiotrophy in Australian Working Kelpies Is Associated with Two Major Risk Loci.
- Species:
- dog
Plain-English summary
A group of Australian Working Kelpies was found to have a genetic condition called cerebellar abiotrophy (CA), which causes symptoms like unsteady movements, head tremors, and difficulty coordinating their limbs. Puppies with a specific genetic marker showed signs of this condition before they were ten weeks old, while others developed symptoms later. Researchers identified two key genetic locations associated with this disorder, which helps explain why some dogs are affected earlier than others. Unfortunately, there is currently no cure, but understanding the genetic basis can help breeders make informed decisions.
People also search for: Australian Kelpie ataxia symptoms · dog head tremors · inherited cerebellar disease in dogs
Abstract
An autosomal recessive form of inherited cerebellar abiotrophy (CA) that is characterized by a degeneration of Purkinje and granule cells in the cerebellar cortex occurs in the Australian working kelpie dog breed. The clinical signs of CA include ataxia, head tremor, motor in-coordination, wide-based stance, and high-stepping gait. Investigation of clinical and pathological features indicated two closely related diseases with differences in age of onset. A genome-wide association study on 45 CA affected and 290 normal healthy Kelpies identified two significantly associated loci, one on CFA9 and a second on CFA20. Dogs homozygous for the risk haplotype on CFA20 (23 dogs) show clinical signs before ten weeks of age. Missense variants in the sixth exon of disruptor of telomeric silencing 1-like (DOT1Lp.R200Q) and in the only exon of Leucine Rich Repeat And Ig Domain Containing 3 (LINGO3p.R359C), both on CFA20, segregate with the associated risk marker which has incomplete penetrance (42%). Affected dogs homozygous for the risk haplotype on CFA9 have later onset ataxia. A missense variant in exon 5 of Vacuole Membrane Protein 1 (VMP1 p.P160Q) on CFA9 segregates as a fully penetrant Mendelian recessive with later-onset CA. Across mammals, the variety of causative loci so far identified as influencing cerebellar disorders reinforces the complexity of the pathways that contribute to cerebellar development and function, and to the pathophysiological mechanisms that may lead to cerebellar ataxia.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/36292596/