A young neuroscience researcher at the Université de Montréal, Alex Desautels, has just made a major genetic breakthrough in understanding the disorder known as nocturnal myoclonus or Restless Legs Syndrome (RLS). What Desautels has discovered is the region on human chromosome 12 where the gene for susceptibility to RLS is located. "I think this is the most important discovery about the syndrome since we've been studying it," says Dr. Jacques Montplaisir, director of the sleep clinic (Centre d'étude du sommeil et des rhythmes biologiques) at Montréal's Sacré-Coeur Hospital, himself a pioneer in research on sleep disorders.

"We observed a specific region in all afflicted subjects," says Alex Desautels, who has published his results in the American Journal of Human Genetics. Discovery of this region of likelihood, the researcher explains, means that we can think about finding the actual gene that's responsible. To take a concrete example: if the human genome is the planet Earth, not only have the continent and country now been found, but also the city where the gene lives. "We're definitely homing in," declares Desautels.

RLS is a widespread disorder. At present there is no biochemical test that patients can take to diagnose their problem. Doctors must rely on clinical signs to confirm the condition. With the discovery of the susceptibility gene just around the corner, it's possible to envision developing a blood test that could make diagnosis possible. Besides experiencing difficulty falling asleep, patients with RLS generally have agitated and unrestful sleep patterns. Feelings of acute discomfort in the lower limbs - pins and needles, crawling sensations, involuntary jerks and spasms - awaken them almost the moment an RLS sufferer gets into bed or sits down. Often the person you see walking up and down the aisle of an airplane or pacing at the back of a movie theater during the show suffers from RLS. Over 350,000 Quebecers - far more than in the rest of Canada combined - are seriously afflicted. This high prevalence, however, made it possible for Desautels and his team to track the gene of one French-Canadian family in which several members had the condition.

Though largely unknown to the general public, RLS may be the fourth most common affliction in patients seeking help at sleep clinics. Most have the syndrome in a relatively benign form, but patients in the most serious cases have been known to suffer up to 13,000 involuntary muscular jerks in a single night.

Alex Desautels already has an impressive track record in research. While working on his master's degree in the UdeM school of optometry, he co-authored an article with Christian Casanova and others in the journal Nature. Since then, he has published in several international journals and taken part in scientific meetings. Two years ago, he also won five bursaries for outstanding work in his doctoral studies.

Researcher: Alex Desautels
Phone: (514) 761-6131, Local 2356
Funding: Canadian Institute of Health Research