Peer-reviewed veterinary case report
Progressive ataxia and tremors in Australian Kelpies with Krabbe
By Fletcher, Jessica L et al.·Published in Journal of the American Veterinary Medical Association·2010·Faculty of Veterinary Science, Australia·View original on PubMed →
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Original publication title: Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease).
- Species:
- dog
Plain-English summary
Four working Australian Kelpies were brought in for symptoms like progressive loss of coordination (ataxia), shaking (tremors), and weakness (paresis). Tests showed that these dogs had a genetic condition called globoid cell leukodystrophy (GLD), which affects the nervous system and leads to significant damage in their brains. The affected dogs had low levels of a specific enzyme and showed signs of inflammation and nerve damage. Unfortunately, GLD is inherited, so it's important for breeders to consider genetic testing to avoid passing this condition on to future generations.
People also search for: Australian Kelpie ataxia symptoms · dog tremors treatment · globoid cell leukodystrophy in dogs · inherited diseases in Kelpies
Abstract
OBJECTIVE: To characterize the clinical signs of globoid cell leukodystrophy (GLD) in Australian Kelpies from a working line (AWKs) and determine whether an association existed between these signs and degrees of demyelination and inflammatory responses in affected brains. DESIGN: Case-control study. ANIMALS: 4 AWKs with GLD (cases) and 7 unaffected young adult dogs of mixed breeding (controls). PROCEDURES: Clinical records were reviewed for information on signalment, and samples of neurologic tissues underwent histological processing, immunohistochemical staining, and image analysis. Findings were compared between case and control dogs. RESULTS: The 4 affected AWKs had progressive ataxia, tremors, and paresis and low leukocyte activity of galactosylceramidase, the lysosomal enzyme deficient in GLD. Image analysis of neurologic tissue revealed globoid cells characteristic of GLD and substantial demyelination in the peripheral and central nervous systems, relative to that in neurologic tissue from control dogs. This was accompanied by microglial activation, reactive astrocyto-sis, and axonal spheroid formation. CONCLUSIONS AND CLINICAL RELEVANCE: The demyelination, inflammatory responses, and axo-nal spheroids evident in the AWKs were consistent with the clinical signs of peripheral nerve, spinal cord, and cerebellar dysfunction. Because GLD is an autosomal recessive inherited disease, with considerable overlap in galactosylceramidase activity existing among heterozygotes and noncarriers, development of a molecular test is important for preventing the perpetuation of this disease in the Australian Kelpie breed.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/20839990/