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Ataxia, Spinocerebellar, CAPN1-related
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
GTPs
General
Disease Name
Ataxia, Spinocerebellar, CAPN1-related
OMIA
1820
Gene Name
CAPN1
Mutation
c.344G>A
Test Type
Genetic Disease/Disorder
Details
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.
Details 2
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).
Published
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.
Published 2
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.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Jack Russell Terrier, Parson Russell Terrier
Breed-specific 1
Parson Russell Terrier
Breed-specific 1 Details
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.
Breed-specific 2
Jack Russell Terrier
Breed-specific 2 Details
Unpublished
Breed-specific 3
Australian Terrier
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.
