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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: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the 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,