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Background  Spinocerebellar ataxia also referred to as hereditary ataxia comprises different forms of progressive neurodegenerative diseases. A complex mode of inheritance was most likely in Parson Russell Terriers (PRT) and in Jack Russell Terriers (JRT). Recently, the missense mutation  KCNJ10: c.627C > G was shown to be associated with the spinocerebellar ataxia (SCA) in JRT and related Russell group of terriers, whereas the missense mutation  CAPN1: c.344G > A was associated with late onset ataxia (LOA) in PRT.    Results  We performed a genome-wide association study (GWAS) in PRT including 15 cases and 29 controls and found a statistically strong signal in the genomic region on dog chromosome 38 (CFA38) where  KCNJ10  is located. We tested the  CAPN1: c.344G > A and  KCNJ10: c.627C > G (Transcript XM_545752.4) mutations in a sample of 77 PRT and 9 JRT from Germany as well as further 179 controls from 20 different dog breeds. All cases and controls genotyped carried the wild-type for the  CAPN1: c.344G > A mutation. Among the PRT, 17/77 (22.1 %) dogs were homozygous for the mutant  KCNJ10  allele and 22/77 (28.6 %) dogs were heterozygous. Three cases of PRT had the homozygous  KCNJ10  wild-type. In JRT, 1/3 cases did show the mutant  KCNJ10  allele homozygous. Thus, we sequenced the  KCNJ10  exons with their adjacent regions from 10 PRT and 3 JRT including the animals with imperfect co-segregation of the c.627C > G mutation. We identified a total of 45 genetic variants within  KCNJ10 . The most likely variant explaining the cases appeared a 1-bp-insertion in a C-stretch within exon 3 ( KCNJ10: g.22141027insC). In silico analysis showed that this indel may influence the regulation of gene expression.    Conclusions  In the present study, 16/21 cases of hereditary ataxia perfectly co-segregated with the  KCNJ10: c.627C > G mutation. The  CAPN1: c.344G > A mutation could not be validated and seems to be a rare variant in the samples screened. Screening  KCNJ10  for further mutations did result in a genetic variant explaining 2 JRT cases but further 3 cases with a non-mutant homozygous c.627C > G genotype could not be resolved. Breeders have to be aware that DNA-testing for hereditary ataxia in PRT and JRT does not capture all cases of hereditary ataxia in these dog breeds. At least one further form of hereditary ataxia not yet resolved by a mutation may occur in PRT and JRT.    Electronic supplementary material  The online version of this article (doi:10.1186/s12917-016-0862-x) contains supplementary material, which is available to authorized users.

bmc veterinary research

Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier