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Ataxia, Spinocerebellar, CAPN1-related
Breed: Russell Terrier
Generic Phene Data
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
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Unpublished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.
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CAPN1
Mutation
c.344G>A; c.627C>G; c.986T>C
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
hereditary ataxia
GTP Disease Synonym
Late Onset ataxia
Gene Name
CAPN1
Mutation
c.344G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
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.
Application in the Breed
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
Inheritance
AR
FCI Number
345
GTP Breed
Jack Russell Terrier
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CAPN1
Mutation
c.344G>A; c.627C>G; c.986T>C
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CAPN1
Mutation
c.344G>A; c.627C>G; c.986T>C
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CAPN1
Mutation
c.344G>A; c.627C>G; c.986T>C
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
hereditary ataxia
Gene Name
CAPN1
Mutation
c.344G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
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.
Application in the Breed
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
Inheritance
AR
FCI Number
345
GTP Breed
Jack Russell Terrier
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
CAPN1
Mutation
c.344G>A
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
hereditary ataxia
GTP Disease Synonym
Late Onset Ataxia
Gene Name
CAPN1
Mutation
c.344G>A
Nature of test
mutation test
FCI Number
345
GTP Breed
Jack Russell Terrier
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CAPN1
Mutation
c.344G>A; c.627C>G; c.986T>C
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CAPN1
Mutation
c.344G>A; c.627C>G; c.986T>C
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
hereditary ataxia
Gene Name
CAPN1
Mutation
c.344G>A; c.627C>G; c.986T>C
Nature of test
mutation test
FCI Number
345
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
hereditary ataxia
Gene Name
CAPN1
Mutation
c.344G>A; c.627C>G; c.986T>C
Nature of test
mutation test
FCI Number
345
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CAPN1
Mutation
c.344G>A; c.627C>G; c.986T>C
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
hereditary ataxia
Gene Name
CAPN1
Mutation
c.344G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CAPN1
Mutation
c.344G>A; c.627C>G; c.986T>C
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
CAPN1
Mutation
c.344G>A
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CAPN1
Mutation
c.344G>A; c.627C>G; c.986T>C
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
hereditary ataxia
Gene Name
CAPN1
Mutation
c.344G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
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.
Application in the Breed
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
Inheritance
AR
FCI Number
345
GTP Breed
Jack Russell Terrier
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CAPN1
Mutation
c.344G>A; c.627C>G; c.986T>C
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