Genetic Test
The CAPN1 (Calpain 1) gene encodes a protein that functions specifically in the stomach and muscle cells to degrade cysteine-containing proteins intracellularly.
Mutations in this gene have been linked to spinocerebellar ataxia, a neurodegenerative disorder characterized by progressive loss of coordination and motor function due to degeneration of the spinal cord and cerebellum.
This genetic test targets a specific CAPN1 mutation associated with spinocerebellar ataxia.
Disease Description
Spinocerebellar ataxia is a neurological disorder caused by abnormalities in the brain or spinal cord, leading to uncoordinated movements and loss of balance.
Because the cerebellum is affected, affected animals may exhibit abnormal posture, tremors, dizziness triggered by sudden head movements, and involuntary eye movements (nystagmus).
These symptoms can sometimes be mistaken for a stroke.
