Overview

By any name, amyotrophic lateral sclerosis, usually known as Lou Gehrig’s disease or its acronym ALS, is a terrible disease.

In ALS, too many motor neurons die, leading to progressive paralysis and death. There is no cure. And while having a small number of motor neurons die is a natural part of aging, no one knows why the process is so greatly accelerated in ALS. Or how to stop it.

Only 10 percent of ALS cases have a known heritable component. Nonetheless, researchers hope that investigating the mechanisms of the familial disease will yield information that will help all patients. And while mutations in the SOD1 gene was for years the only related genetic contributor to the disease, more contributing genes have recently been uncovered, uncovering more of the genetic basis for the disease and opening the potential for new therapeutic targets.

Research

Our scientists are working to identify the underlying patterns of genetic susceptibility to ALS. Their findings are also generating new insights into the environmental triggers of ALS.

Associate Professor Greg A. Cox, Ph.D.,   Greg works with the nerves that power our muscles, called motor neurons, and diseases associated with them. Dr. Cox has projects investigating aspects of spinal muscle atrophy (SMA) and muscular dystrophy in addition to studying the effects of genetics on amyotrophic lateral sclerosis (ALS).

 See Greg discuss his ALS research (3:23)

Research Scientist Kevin Seburn, Ph.D., Kevin investigates aspects of diseases that affect the neuromuscular system. An area of particular research interest is to find genes that modify the onset of ALS in disease cases involving mutations in the SOD1 gene.

Resources

• The ALS Association
• The National Institute of Neurological Disorders and Stroke
• Wikipedia's entry on ALS
• ALS Therapy Development Institute
• World Federation of Neurology Amyotrophic Lateral Sclerosis
• ALS Division of MDA, the Muscular Dystrophy Association
• American Academy of Neurology
• Neurology Channel

Personal Connections

It’s been five years since George Miller watched a friend die of ALS.

Now, he says, it’s his turn.

“What is … is,” George says, his speech strained and distorted by the muscle degeneration inherent in amyotrophic lateral sclerosis (ALS), a disease that few survive beyond five years. “I remember my friend, Shawn, saying that he felt sorry for himself for 10 minutes a day. I don’t even do that. I figure that the more time I spend worrying about what I can’t do, the less time I have to do the things I can.”

George tells us about the best part of his day (1:07)

Like his father, George was born in the rural Maine farmhouse that he and his wife, Janice Von Brook, now call home. Built by his great-grandfather with the help of his grandfather, it’s the showpiece of the Katahdin View Farm near Bangor. Although the 100-acre farm in Hampden is 70-something miles from Maine’s highest mountain, you can see Katahdin from a hilltop on the windswept acres where the couple raises pigs, chickens and registered Charolais cattle. A cranny in the farmhouse mudroom is crammed with well-worn coveralls, muddy chore boots and an array of livestock trophies, including those George collected last summer for showing the best bull and cow at Maine’s iconic Blue Hill Fair.

As they’ve been for nearly all of his 66 years, George’s animals are his life. His barnyard beasts anchor a 24/7 existence devoted to farm chores and animal husbandry challenges that, he says with a smile, never fail to present themselves in bad weather during the dark of night. While George’s ALS symptoms are beginning to affect his balance, they haven’t slowed him down. Not yet, anyway. His movements are measured, but he doesn’t spill even a kernel as he scales a maze of pig panels to feed his sows from buckets of corn and other grains.

“His attitude has been absolutely wonderful,” Janice says. “I remember early on, telling him how sorry I was he has to go through all this. And what he said surprised me: ‘Somebody has to do it.’”

George’s ALS symptoms surfaced as slurred speech, which Janice first noticed when George spoke at a meeting in February 2006. On the drive home, George admitted he had known something was wrong since December. A neurologist in Boston confirmed that George either had ALS or some close cousin of the always fatal disease, a progression of motor neuron failures that leaves its victims’ minds intact as it gradually robs them of control over muscle movement. What began with George as trouble speaking has since progressed to trouble swallowing and breathing.

 What the diagnosis means to George (1:28)

There’s no apparent genetic link between George and his condition. There’s no family history of ALS, which isn’t unusual. ALS researchers at The Jackson Laboratory and elsewhere have found that fewer than 10 percent of the 5,600 new ALS cases diagnosed in the United States each year can be directly attributed to family genetics. With at least 90 percent of ALS cases being random, this disease can potentially surface in anyone. ALS experts are the first to admit that there are many more questions than answers.

“This disorder is so devastating, and our knowledge base is still so incomplete,” says Associate Professor Greg Cox, Ph.D., whose Jackson Laboratory research team has been studying the genetic elements of a wide range of motor neuron diseases for the last nine years. “And, in terms of the sporadic cases, we’re all still scratching our heads. We really don’t know what triggers these sporadic cases. We’re just hopeful that what we can figure out in the handful of genetic cases might apply to sporadic cases, but that’s a big ‘might.’ We have no idea if it will or not, but it’s the only handle we have.

George Miller is no stranger to either Dr. Cox or to The Jackson Laboratory. Both George’s wife, Janice, and her daughter, Carol Lamb, have worked as senior administrative assistants at The Jackson Laboratory for many years. When they helped to organize the first ALS Walk in Bangor in August, Dr. Cox, his family and his research team were among the first to sign up. Approximately 160 walkers, including the 30-member “Fighting for Farmer George” team, raised more than $32,000 in support of ALS research.

Watch a video from the 2008 Bangor ALS Walk