3/13/98
GENE MAPPED FOR EARLY-ONSET,
SLOWLY PROGRESSIVE FORM OF ALS
By Margaret Wahl, MDA Science Writer
The gene for an early-onset but slowly progressive form of amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease) has been mapped to a small region of chromosome 9. The disorder is considered a juvenile-onset form of ALS, which is a degenerative disease of motor neurons, the muscle-controlling nerve cells located in the brain and spinal cord.
"Unlike classical ALS, this form has a very slow progression and is probably compatible with a normal life span," said MDA grantee Phillip Chance, who headed the research team that published its findings in the March issue of the American Journal of Human Genetics. Chance, a neurologist and genetics researcher, was at the University of Pennsylvania in Philadelphia at the time of the study but has since moved to the University of Washington in Seattle.
"The disorder involves wasting of the muscles of the lower legs, forearms, upper arms and thighs, and people are frequently in wheelchairs in their 50s and 60s, with little functional hand use," said Chance, noting that the average age of onset of this form of ALS is 17, as opposed to late middle age for the classical form of ALS.
"It was really through the generous participation of this huge family, the Mattingly family, that we were able to carry out the genetic studies that resulted in mapping the gene to chromosome 9," Chance said.
David Cornblath of the Neurology Department at Johns Hopkins University School of Medicine in Baltimore is also an MDA grantee and also worked on the project. "Juvenile ALS is not so terrible as later-onset ALS," Cornblath noted, recalling that some members of the Mattingly family were originally told they had a much less severe disease known as Charcot-Marie-Tooth disease (CMT), a peripheral neuropathy. Cornblath said the new gene finding may provide "another pathway for studying ALS."
The doctors say Andrew Jackson, a retired Black and Decker executive from Baltimore, was the family member most responsible for getting the genetic studies accomplished. Jackson, now 70, has had this slowly progressive form of ALS since he was a young man. He now uses a wheelchair and has little arm or hand function.
Contributing to ALS research has meant a great deal to him, Jackson said. "I was a true workaholic at Black and Decker," he said, "because I couldn't do things that others could do, physically. But I always wanted to get a research project started for this disorder after I retired."
Jackson, whose mother was a Mattingly, helped organize a family reunion on Solomon's Island, Md., in June 1994, that was the kickoff for the family study.
Chance emphasized that, at this time, the precise gene for the disorder is not yet known, and that this is a crucial step in developing further understanding of or treatments for this or any other genetic disease. "There are a number of interesting genes in that region on chromosome 9 that will be tested," Chance said. "We're well on the journey." Understanding the gene's normal and abnormal functions will provide researchers with another mechanism of motor neuron degeneration, Chance said, with potential implications for other forms of ALS and other motor neuron disorders.
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