New Insights into ALS Biology Gleaned from Genetic Study

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a fatal neurodegenerative disease affecting about 30,000 people in the U.S. Most ALS is sporadic, but about 5% to 10% of cases are familial (involving at least two blood relatives). Mutations in genes such as SOD1, TDP43, FUS, and VCP combined account for about 30% of these familial cases. Various pathological processes have been proposed as important disease mechanisms, including oxidative stress, excitotoxic damage, mitochondrial dysfunction, RNA processing, and the intraneuronal accumulation of abnormal protein aggregates.

Now, researchers have conducted genetic analyses of a family with 19 members affected by ALS with or without dementia. The researchers identifi…