What genes are related to amyotrophic lateral sclerosis?
Mutations in the ALS2, SETX, SOD1, and VAPB genes cause amyotrophic lateral sclerosis. Variations of the NEFH, SMN1, and SMN2 genes increase the risk of developing amyotrophic lateral sclerosis. Each type of familial amyotrophic lateral sclerosis is caused by mutations in a specific gene. Type 1 is caused by mutations in the SOD1 gene, type 2 by ALS2 mutations, type 4 by mutations in the SETX gene, and type 8 by VAPB mutations. These mutations contribute to the decline and death of motor neurons, which leads to muscle weakness and atrophy. Not all familial cases are due to SOD1, ALS2, SETX, or VAPB mutations. Other genes are thought to cause amyotrophic lateral sclerosis, but they have not been identified or fully characterized. Mutations in the NEFH gene appear to increase the risk of developing amyotrophic lateral sclerosis. Research findings also suggest that a decrease in the number of SMN1 or SMN2 genes leads to an increased chance of developing this disorder. It is unclear how va
