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Hereditary ataxia in four related Norwegian Buhunds

Mari, Lorenzo, Matiasek, Kaspar, Jenkins, Christopher A., De Stefani, Alberta, Ricketts, Sally L., Forman, Oliver, De Risio, Luisa
Journal of the American Veterinary Medical Association 2018 v.253 no.6 pp. 774-780
Canine distemper virus, Neospora caninum, Toxoplasma gondii, ataxia (disorder), biopsy, blood serum, brain stem, breeding, calbindin, cerebellum, clinical examination, females, fibroblasts, genetic variation, head, histology, histopathology, inheritance (genetics), inositols, magnetic resonance imaging, neurodegenerative diseases, pedigree, polymerase chain reaction, puppies, screening, sequence analysis
CASE DESCRIPTION Two 12-week-old Norwegian Buhunds from a litter of 5 were evaluated because of slowly progressive cerebellar ataxia and fine head tremors. Two other females from the same pedigree had been previously evaluated for similar signs. CLINICAL FINDINGS Findings of general physical examination, CBC, and serum biochemical analysis were unremarkable for all affected puppies. Brain MRI and CSF analysis, including PCR assays for detection of Toxoplasma gondii, Neospora caninum, and canine distemper virus, were performed for 3 dogs, yielding unremarkable results. Urinary organic acid screening, enzyme analysis of fibroblasts cultured from skin biopsy specimens, and brainstem auditory-evoked response testing were performed for 2 puppies, and results were also unremarkable. TREATMENT AND OUTCOME The affected puppies were euthanized at the breeder's request, and their brains and spinal cords were submitted for histologic examination. Histopathologic findings included a markedly reduced expression of calbindin D28K and inositol triphosphate receptor 1 by Purkinje cells, with only mild signs of neuronal degeneration. Results of pedigree analysis suggested an autosomal recessive mode of inheritance. Candidate-gene analysis via mRNA sequencing for 2 of the affected puppies revealed no genetic variants that could be causally associated with the observed abnormalities. CLINICAL RELEVANCE Findings for the dogs of this report suggested the existence of a hereditary form of ataxia in Norwegian Buhunds with histologic characteristics suggestive of Purkinje cell dysfunction. The presence of hereditary ataxia in this breed must be considered both in clinical settings and for breeding strategies.