Ataxia seems to come in breed-related, or breed-specific types. It is characterized by uncoordinated movements, and can have a range of other movement-related symptoms. According to researchers (Forman et al. 2013) The CAPN1 form of this disease manifests as a slowly progressing pelvic limb incoordination, with an onset usually at 2 to 9 months of age. The observed age at onset for Parson Russell Terrier ranged between 7-12 months. As the disease progresses a characteristic ?dancing? or ?prancing? gait is displayed, especially affecting the pelvic limbs.
The CAPN1 form of this disease manifests as a slowly progressing pelvic limb incoordination, with an onset usually at 2 to 9 months of age. As the disease progresses a characteristic ?dancing? or ?prancing? gait is displayed, especially affecting the pelvic limbs. The age at onset of Parson Russell Terrier cases that were used to identify the CAPN1:p.Cys115Tyr variant ranged between 7-12 months. (Forman et al. 2013).
Forman, O.P., De Risio, L., Mellersh, C.S. : Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed. PLoS One 8:e64627, 2013. Pubmed reference: 23741357. DOI: 10.1371/journal.pone.0064627.
Cherubini, G.B. : Hereditary ataxia in Jack Russell terriers in the UK. Vet Rec 174:258, 2014. Pubmed reference: 24736826. DOI: 10.1136/vr.g1973.
Publication demonstrated strong association between mutation and disease. No functional evidence provided. Good candidate gene. Forman et al., (2013) Missense Mutation in CAPN1 Is Associated with Spinocerebellar Ataxia in the Parson Russell Terrier Dog Breed. PLoS ONE, 8, e64627.
Jack Russell Terrier
Breed-specific 2 Details
Breed-specific details 3
Publications indicate this mutation in rare Russell group breeds and no published evidence it is segregating in breeds other than PRT. Gast et al., (2016) 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. Rhodin et al., (2015) A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds. Acta Vet Scand. 2015 May 23;57:26. doi: 10.1186/s13028-015-0115-1.
The HGTD genetic counselling resources index link above and links below provide access to basic introductory articles on genetics, articles on application of genetics in breed health management and advanced work in technical genetics research. Breed-specific information is also available in DWN's Pedigreed Dogs Database.