Genetic Test
The KCNJ10 (Potassium Inwardly Rectifying Channel Subfamily J Member 10) gene encodes a protein that forms potassium channels, which play a critical role in potassium buffering by glial cells in the brain.
Mutations in this gene have been associated with spinocerebellar ataxia accompanied by muscle spasms, a neurodegenerative disorder affecting coordination and motor function.
This genetic test targets a specific KCNJ10 mutation linked to spinocerebellar ataxia with muscle spasms.
Disease Description
Spinocerebellar ataxia is a neurological disorder caused by abnormalities in the brain or spinal cord, resulting in uncoordinated movements and loss of balance.
Because the cerebellum is affected, affected animals may show abnormal posture, tremors, dizziness triggered by sudden head movements, and abnormal eye movements (nystagmus).
These symptoms can sometimes be mistaken for a stroke.
