Gene Mutations in Non-Familial ALS

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According to a July 2014 report in the Morbidity and Mortality Weekly Report (MMWR), amytrophic lateral sclerosis (ALS) or Lou Gehrig’s disease is estimated to affect about 3.9 individuals for every 100,000 Americans, most commonly diagnosed in the elderly who are in their 70s. While the cause of this progressive and fatal neuromuscular disease has yet to be fully understood, experts believe a familial form of ALS comprises about 5%-10% of all cases.

A study from the Washington University School of Medicine in St. Louis and Cedars-Sinai Medical Center in Los Angeles is suggesting the remaining 90%-95% of ALS patients deemed to have a sporadic form of the disease, in that they do not have a family history of ALS, may actually be carrying with them genetic mutations that trigger and drive ALS, and that these cases occur more often than we think. They also discovered the number of gene aberrations one bears can determine the age of disease onset. A report of this study is available online in the Annals of Neurology.

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