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Ataxia, Spinocerebellar, CAPN1-related

General

Disease Name
Ataxia, Spinocerebellar, CAPN1-related
Disease Name 2
Spinocerebellar Ataxia/Hereditary Ataxia
OMIA
1820
Gene Name
CAPN1
Mutation
c.344G>A
Mutation 2
c.627C>G
Mutation 3
c.986T>C
OMIM
616907
Disease Code
CSA
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
Inheritance
AR
Gene Name Text
calpain 1, (mu/I) large subunit
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