Norwegian Kennel Club

A number of inherited ataxias is known in humans, with more than 250 loci implicated, most of which are included in human ataxia screening panels. Anecdotally, cases of ataxia in the Norwegian elkhound black have been known for the last 40 years. Affected puppies from three litters were clinically and neurologically examined, and postmortem samples were collected for morphological studies, including ultrastructural analyses. The puppies displayed vestibulocerebellar neurological signs and had degenerative histopathological alterations in cerebellum and brain stem. Three affected dogs, each from different litters, as well as both parents and one healthy littermate from each litter, were whole genome sequenced. Through variant calling we discovered a disease-associated 1 bp deletion in HACE1 (CFA12), resulting in a frameshift at codon 333 and a premature stop codon at codon 366. The perfect association combined with the predicted significant molecular effect, strongly suggest that we have found the causative mutation for Norwegian elkhound black ataxia. We have identified a novel candidate gene for ataxia where dogs can serve as a spontaneous model for improved understanding of ataxia, also in human.

The aims of the study were to estimate Toxoplasma gondii seroprevalence in pet cats in Norway and to evaluate risk factors for seropositivity. Additionally, serum biochemistry and haematological variables for T gondii seropositive and seronegative cats were compared. A convenience sample of surplus sera submitted to the Central Laboratory, Norwegian University of Life Sciences, was collected. The samples were from healthy cats and cats with a variety of diseases. Analyses for IgG antibodies to T gondii were performed with a commercial direct agglutination test, with 1:40 as the threshold value. For risk factor analysis a logistic regression model of the relationship between predictors and the outcome was applied. One hundred and ninety-six of 478 cats were seropositive for T gondii, and the estimated seroprevalence in the study sample was 41.0% (95% confidence interval 36.6-45.4). Compared with domestic cats, pedigree cats had reduced risk for Toxoplasma seropositivity (odds ratio [OR] 0.42). Males had increased risk (OR 1.63) compared with females. The effect of age was highly significant, and an increase in the cats' age across the interquartile range (IQR; 52-160 months/4-13 years of age) doubled the risk of Toxoplasma seropositivity (OR 2.11). The risk for Toxoplasma seropositivity among cats living in Oslo was significantly reduced (OR 0.51) when compared with the rest of Norway. Pet cats in Norway appear to be commonly exposed to T gondii. Signalment and geographical region influenced the odds of Toxoplasma seropositivity, whereas health status did not.

The main objective of this study was to study risk factors affecting metaphyseal irregularities (MI) in the distal radius and ulna of growing Newfoundland dogs. Risk factors studied included the genetic effects, effects of litters, BW, circumferences of the distal radius and ulna (CDRU), and total serum alkaline phosphatase (ALP) concentrations. The study included 118 Newfoundland dogs (60 females, 58 males), derived from 32 litters. Body weight, separated on sex and MI, was fitted to the Gompertz function. Occurrence of MI differed significantly between sexes, with 55% of males and 35% of females affected (P = 0.03). Growth curves for the 2 groups of dogs, with and without MI, diverged after 60 to 70 d, and dogs with irregularities were heavier at maturity than dogs of the same sex without irregularities. In univariate analysis, the litter effect was a significant predictor of MI, explaining 32% of total variability of the MI incidence, but the genetic effects were not significant. However, the latter were significant in bivariate analysis of MI and BW. In the bivariate analysis, the effects of litter on MI and BW were significantly correlated at all observational points except at birth, 180 d, and 536 d. Total ALP concentrations decreased with increasing age, and differences between groups diminished with increasing age, indicating a negative effect of total ALP on MI. Correlation between MI and total ALP concentrations of litters was estimated in a bivariate analysis. This correlation was significant and ranged between -0.34 and -0.62. Similarly, the genetic relationship between total ALP and MI from 120 d of age onward varied between -0.31 to -0.60. However, correlations were only significant at 356 d of age (genetic correlation = 0.60; P = 0.01). The mean CDRU increased from 90 d of age toward a peak at 180 d. Thereafter, CDRU declined and stabilized at about 1 yr of age. The mean CDRU between the groups of dogs with and without MI diverged most at 90 d of age, then was nearly stable until 180 d and gradually declined until 356 d, when the CDRU began to equalize. Metaphyseal irregularities and CDRU levels of litter were significantly correlated. Litter effect was a significant predictor of MI. The effects of litters and the genetic effects on BW and MI were correlated at most phases of the growth of the dog. Similar, but lower, correlations were found for CDRU and MI, and total ALP and MI.