Montreal (December 11, 2006) - A study at the Université de Montréal led to the discovery of a new form of recessive ataxia named recessive ataxia of Beauce because it is concentrated in the Beauce and Bas-St-Laurent regions of the province of Quebec.
People afflicted with ataxia have co-ordination problems as a result of anomalies in parts of the nervous system that normally control co-ordination and balance.
The study, published in the December issue of Nature Genetics, for the first time identified the cause of this form of ataxia: mutations in the SYNE1 gene.
The study was conducted in Dr. Guy Rouleau's laboratory by Dr. François Gros-Louis at the Université de Montréal's Center for the Study of Brain Diseases which is located at St-Justine Hospital and the Université de Montréal Health Center (CHUM).
"We identified a geographically defined group of 26 French-Canadian families, including 53 affected family members, most of which originate from the Beauce and Bas-St-Laurent regions of the province of Quebec," explained Drs. Rouleau and Gros-Louis.
These results establish SYNE1 as the gene responsible for this newly identified form of recessive ataxia. Five different mutations were identified in a relatively homogenous population, and so the researchers predict that mutations in this gene may be responsible for a substantial fraction of all adult-onset autosomal recessive ataxia syndromes with cerebellar atrophy.
"The identification of additional mutations in SYNE1 in other families with recessive and pure cerebellar ataxia of different ancestries would confirm that this locus is a prominent cause of this type of disorder," Drs. Rouleau and Gros-Louis said. "Further understanding of SYNE1 mutations will provide insights into not only this gene but possibly other neurodegenerative diseases. Ultimately, this discovery is a step towards the development of therapies for people suffering from ataxia."
"Drs. Rouleau and Gros-Louis have made an important finding," said Dr. Rémi Quirion, Scientific Director of the Canadian Institutes of Health Research Institute of Neurosciences, Mental Health and Addiction. "Having identified the genetic cause of this condition, it is now important to do further research to improve our understanding of the function(s) of SYNE1 so we can eventually develop new therapeutic approaches to such neurodegenerative diseases."
Drs. Rouleau and Gros-Louis are financially supported by the Canadian Institutes of Health Research (CIHR). The project was funded by the Canadian Genetic Diseases Network (CGDN), by the US National Ataxia Foundation and by a grant from the US National Institutes of Health. The project was done in cooperation with Université Laval and Harvard University.
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About CIHRCIHR is the Government of Canada's agency for health research. CIHR's mission is to create new scientific knowledge and to catalyze its translation into improved health, more effective health services and products, and a strengthened Canadian health care system. Composed of 13 Institutes, CIHR provides leadership and support to over 10,000 health researchers and trainees across Canada. www.cihr-irsc.gc.ca
About Université de MontrealFounded in 1878, the Université de Montréal is, along with its affiliated schools, HEC Montréal and the École Polytechnique, the leader in higher education and research in Quebec, the second in Canada and one of the most important in North America. Its Faculty of Medicine includes over 4,000 students and relies on a solid hospital network featuring two major university hospitals (UHC) and thirteen affiliated hospitals and institutes. Through its Réseau Universitaire Intégré de Santé (RUIS), the Faculty of Medecine is responsible for the health care of 40% of the Quebec population.
For more information:
Marie-France PoirierMedia Relations SpecialistCanadian Institutes of Health Research (CIHR)613-941-4563mediarelations@cihr-irsc.gc.ca
Marc TulinPress OfficerUniversité de Montréal514 343-7593
