ALS is often categorized as either familial (fALS) or sporadic (sALS). But anyone whose ALS has a genetic component is considered to have genetic ALS—regardless of a known family history of the disease. People living with ALS whose genetic testing results reveal a mutation in SOD1 are considered to have SOD1-ALS.
When a person has a mutation in the SOD1 gene, it produces mutated SOD1 protein in the brain and spinal cord. Over time, the buildup of mutated SOD1 protein can kill nerve cells that control muscle movement. This can result in the symptoms of SOD1-ALS.
When nerve cells are damaged or destroyed, structural components called neurofilaments are released. The more that mutated SOD1 protein builds up, the more nerve cells are killed—leading to elevated neurofilament levels in cerebrospinal fluid (CSF) and blood. Given these connections, the level of neurofilament is thought to be an important prognostic marker of disease progression in ALS.
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