Peer-reviewed veterinary case report
Inherited brain white matter disease in Australian cattle
By Li, Fang-Yuan et al.·Published in Neurobiology of disease·2006·Department of Medical Sciences, United States·View original on PubMed →
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Original publication title: Canine spongiform leukoencephalomyelopathy is associated with a missense mutation in cytochrome b.
- Species:
- dog
Plain-English summary
Two families of dogs, Australian cattle dogs and Shetland sheepdogs, were found to have a serious inherited brain condition called spongiform leukoencephalomyelopathy. Affected puppies started showing tremors between 2 to 9 weeks old, and their symptoms progressed to include coordination problems, weakness, and paralysis. Testing revealed a genetic mutation linked to this condition. Unfortunately, there is no cure, and the condition leads to severe neurological decline.
People also search for: Australian cattle dog tremors · Shetland sheepdog neurological problems · puppy paralysis treatment
Abstract
Two families of dogs (Australian cattle dogs and Shetland sheepdogs) with an inherited "spongiform leukoencephalomyelopathy" were identified, with widespread vacuolation of white matter of the brain and spinal cord. Affected dogs of both breeds developed tremors at 2-9 weeks of age followed by progressive neurological worsening with ataxia, paresis, paralysis, spasticity, and cranial nerve dysfunction. The modes of inheritance of both families were most likely maternal. The cerebrospinal fluid (CSF) analysis showed elevated ratio of 3-OH butyrate to acetoacetic acid. Mitochondrial DNA sequencing showed a G to A transition at 14,474 nt (G14474A, GenBank accession no. NC002008 ) that results in an amino acid change of valine-98 to methionine (V98M) of mitochondrial encoded cytochrome b. Western blot analysis showed increased levels of core I and core II but decreased level of cytochrome c1 of the complex III and cytochrome c oxidase of the complex IV of the respiratory chain.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/16026996/