Several genetically distinct forms of cerebellar ataxia exist in Belgian shepherd dogs. We investigated a litter in which two puppies developed cerebellar ataxia. The clinical signs stabilized at around six weeks of age, but remained visible into adulthood. Combined linkage and homozygosity mapping delineated a 5.5 Mb critical interval. The comparison of whole-genome sequence data of one affected dog to 929 control genomes revealed a private homozygous ~4.8 kb deletion in the critical interval, Chr8:14,468,376_14,473,136del4761. The deletion comprises exon 35 of the RALGAPA1 gene, XM_038544497.1:c.6080-2893_6944+1003del. It is predicted to introduce a premature stop codon into the transcript, truncating ~23% of the wild-type open reading frame of the encoded Ral GTPase-activating protein catalytic subunit α 1, XP_038400425.1:(p.Val2027Glnfs*7). Genotypes at the deletion showed the expected co-segregation with the phenotype in the family. Genotyping additional ataxic Belgian shepherd dogs revealed three additional homozygous mutant dogs from a single litter, which had been euthanized at five weeks of age due to their severe clinical phenotype. Histopathology revealed cytoplasmic accumulation of granular material within cerebellar Purkinje cells. Genotyping a cohort of almost 900 Belgian shepherd dogs showed the expected genotype–phenotype association and a carrier frequency of 5% in the population. Human patients with loss-of-function variants in RALGAPA1 develop psychomotor disability and early-onset epilepsy. The available clinical and histopathological data, together with current knowledge about RALGAPA1 variants and their functional impact in other species, suggest the RALGAPA1 deletion is the likely causative defect for the observed phenotype in the affected dogs.

Native to South America, the coypu (Myocastor coypus) is an invasive alien species (IAS) of Union concern. It was introduced to Germany a hundred years ago and is considered established in all German federal states. Between January and February 2021, ground temperatures below −10° Celsius were recorded in Lower Saxony, Germany, for approximately two consecutive weeks. Five male and five female coypus, harvested between 23 February and 31 March 2021, received a post-mortem examination. Nutritional status was poor in six cases, moderate in three and good in one case. Pregnancy was observed in two females. In all the animals, lesions were predominantly found on the distal limbs (n = 7) and/or tail (n = 10), involving the skin and soft tissue with occasional exposure or loss of bones. The histological findings consisted of chronic, ulcerative to necrotizing dermatitis and occasional ulcerative-suppurative dermatitis, necrotizing myositis, thrombosis, granulation tissue, fibrosis and intralesional dystrophic mineralization. Intralesional bacteria were present in six and fungal spores in one animal. Determination of the exact cause was not possible; however, considering the local weather conditions and the distribution of lesions, frostbite injuries have to be considered as the most likely cause. The intralesional bacteria and fungal spores most likely represent secondary contaminants. Interestingly, lesions of this kind have not been reported in coypus in Germany so far. Therefore, frostbite should be considered as a potential cause of disease in coypus, warranting further investigation.