Spinocerebellar Ataxia (CAPN1) Overview
Spinocerebellar Ataxia (CAPN1)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene: Calpain 1 (CAPN1) on Chromosome 18
Variant Detected: Base Substitution c.344G>A p.Cys115Tyr
Severity: Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance: Autosomal Recessive
Test Overview: A disease of progressive incoordination of gait and loss of balance. Clinical signs usually become notable between 6 and 12 months of age with affected dogs presenting with symmetric spinocerebellar ataxia particularly evident in the pelvic limbs.The CAPN1 gene shows high levels of expression in the brain and nervous system and roles for the protein in both neuronal necrosis and maintenance have been suggested. Clinical signs of SCA are usually recognised by the owners when the dogs are 2 to 9 months of age. Initially the dogs’ owners may notice incoordination, pelvic limb swaying when walking, and difficulty in climbing stairs and jumping. As the disease progresses, a characteristic ‘prancing’ or ‘dancing’ type of gait is observed, especially affecting the pelvic limbs. Severely affected animals frequently fall and have difficulty returning to a standing position.
Research Citation(s): Forman OP, et al. Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed. (2013) PLoS one 8(5);e64627.
Associated Breed(s): Parson Russell Terrier, Mixed Breed,