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If medical science had a trophy cabinet, the shelf for achievement in motor neurone disease would be almost bare. Lack of time hasn't been the problem. It was in 1869 that a French neurologist, Jean-Martin Charcot, suggested grouping several conditions under one name - what we now call MND. Then things went quiet for 120 years. "Traditionally, it was a case of doctors saying to patients, in effect: 'You've got motor neurone disease - go home and write your will,'" says Sydney neurologist Matthew Kiernan. "The specialist didn't like looking after these patients because he knew he had nothing to offer them." There were cracks of light in the 1990s, when researchers implicated a genetic mutation in a small subset of MND patients, and the pharmaceutical company Rhone-Poulenc Rorer launched riluzole (Rilutek), the first - and still only - drug approved for treating the disease. But no one was fooled into thinking that MND was anywhere near beaten.

Tending to strike people aged between 50 and 70, it kills half of them within 14 months of diagnosis by progressively paralyzing the body until the sufferer can't speak, swallow or breathe, while usually leaving the mind untouched. It's MND that confines physicist Stephen Hawking to a wheelchair and last month claimed the life of Australian artist Pro Hart. Experts' understanding of the disease remains sketchy, and riluzole falls way short of being a cure: at best, it might prolong a patient's life for a year.

It's against this gloomy backdrop that Kiernan and a fellow neurologist from Sydney's Prince of Wales Medical Research Institute last week announced a breakthrough. Among the many gaps in the MND puzzle has been a definitive test: clinicians are able to diagnose the condition only after months of observing symptoms and excluding other disorders. Kiernan, an associate professor at the University of New South Wales, and Ph.D. student Steve Vucic say they've developed a better way. Described in the American journal Muscle & Nerve, it involves 40-year-old technology called transcranial magnetic stimulation, which the pair have tailored for a new purpose. Held against a subject's head, a magnetic coil discharges a current that stimulates the motor cortex - the part of the brain that controls movement - causing an involuntary twitch in the subject's right hand.

Kiernan and Vucic observed that this twitch, as registered on their computer screen, was more pronounced in 28 MND patients than in people free of the disease; even a smaller current produced similar results. "The difference was stark," says Kiernan. "Almost as soon as we'd start the test, Steve and I would know (if the patient had MND)."

The test is painless and takes about 30 minutes. But the absence of an effective treatment for MND - of which there are some 1,400 sufferers in Australia - raises the question of whether there's much to be gained from early diagnosis. Kiernan and Vucic are adamant that there is. Their procedure can detect the disease in its very early stages, they believe, when symptoms amount to no more than stiffness, weakness or cramping in the hands - up to a year before a clinician relying on traditional methods could hope to make a diagnosis. Starting patients earlier on riluzole, which works by blocking the effects of the neurotransmitter glutamate, could slow the progress of the disease during its milder phase, buying many extra months of decent-quality life. And there's more to the treatment of MND these days than just swallowing a pill. Recent research suggests a life-extending benefit for MND sufferers using adjunct therapies in the areas of speech, diet and muscular manipulation. Again, starting early seems to be key.

But the prospect of earlier diagnosis may be only one implication of the pair's findings. Assuming it's confirmed in subsequent trials, tracing the starting point of MND to the motor cortex is a step toward unlocking the mysteries of the disease. "We still don't know what the cause of MND is in the majority of cases," says Vucic. "We don't even know where the disease begins - whether it's in the brain, the spinal cord or the peripheral nerves. Our research, however, suggests it starts in the brain." The brain cells of the MND sufferer are primed to fire, they say. This "hyperexcitability," says Kiernan, "appears to initiate the process of nerve death underlying the development of paralysis." If the future of MND treatment involves implanting stem cells, he says, "then the right place to be putting them would appear to be the motor cortex."

A sense of hopelessness has contributed to medical science's scant progress on MND, the researchers argue. "No one," says Kiernan, "wants to go into an area that's completely black." It's also likely that the relatively small market for MND drugs has dulled the pharmaceutical industry's motivation to develop them. Kiernan and Vucic hope their findings - combined with evidence that the incidence of MND seems to be rising, while it is claiming younger victims, with a baffling skew toward male professional athletes in their 30s - will generate more research into the disease. And that one day, a neurologist delivering the bad news to a patient won't be handing down a death sentence.

• Daniel Williams
• Two Australian researchers believe they've landed a blow on a deadly and neglected nerve disease