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Scientists Discover Key Gene Mutation Behind Lou Gehrig's Disease
Date:9/21/2011

By Jenifer Goodwin
HealthDay Reporter

WEDNESDAY, Sept. 21 (HealthDay News) -- Researchers have identified a genetic mutation common to roughly one-third of two devastating neurological disorders, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

ALS, also known as Lou Gehrig's disease, destroys the motor neurons of the brain and the spinal cord, which are responsible for voluntary movement. ALS patients become progressively more paralyzed, and often die within a few years of diagnosis.

FTD is a type of dementia that occurs when the frontal and temporal anterior lobes of the brain atrophy. People with FTD develop erratic behavior, emotional problems, trouble communicating and difficulty with walking and other basic movements.

As with ALS, FTD is often fatal within a few years, according to the U.S. National Institute of Neurological Disorders and Stroke (NINDS).

Now, an international team of researchers has found that about one-third of people who have familial ALS and FTD have a mutation on a specific gene, C9ORF72, that resides on chromosome 9.

The finding has led researchers to suggest that rather than being two separate diseases, ALS and FTD should be thought of as one condition with symptoms that lie along a spectrum.

"When we look at the families in our study, many of the patients had ALS, many had FTD and the remaining had ALS and FTD," said senior study author Dr. Bryan Traynor, chief of the Neuromuscular Diseases Research Group at the U.S. National Institutes of Health. "Although clinically they have always been described as two separate diseases, they are overlapping. We now believe that ALS and FTD are actually different clinical manifestations of the same disease."

The hope, he added, is that a better understanding of the underlying genetic root cause of both diseases could lead to more effective treatments.

"It gives us a target. It's a shortcut,"
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