Gene Mutation Links Sporadic and Inherited ALS Cases

By on May 7, 2010

FRIDAY, May 7A newly found genetic link between most cases of amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig’s disease, potentially opens the door to new treatments, researchers say.

In the majority of cases, ALS occurs randomly from an unknown cause, but about 5 percent to 10 percent of cases are genetic and run in families. About 30 percent of those familial cases have been linked to specific genetic mutations.

In the new study, released online April 14 in advance of publication in an upcoming print issue of the Annals of Neurology, researchers analyzed the spinal cords and brains of 100 people who had died, 78 of whom had ALS. The investigators found one kind of genetic mutation in almost all of the cases.

“This is a game changer because it establishes a connection in the development of sporadic ALS with a known cause of familial ALS,” senior author Dr. Teepu Siddique, a professor in the Davee Department of Neurology and Clinical Neurosciences at Northwestern University Feinberg School of Medicine in Chicago, said in a news release. “Our finding opens up a new field of investigation for rational therapy for all of ALS. This is the holy grail of researchers in this field.”

More information

For more about amyotrophic lateral sclerosis, visit the ALS Association.

Source: HealthDay

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