Montreal researchers join international study of rare genetic disease Friedreich’s ataxia
Global News
Friedreich's ataxia is more prevalent in Quebec and in Acadian regions of the Maritimes, home to the ancestors of many people from western France, according to researchers.
Montreal researchers are joining an international study to learn more about a little-understood genetic disease that is found in Canada, and especially in Quebec and in Acadian regions of the Maritimes.
Dr. Massimo Pandolfo of the Montreal Neurological Institute is among the experts collecting research about Friedreich’s ataxia, a condition that causes progressive mobility limitations as well as other issues, including cardiac problems.
“This is a genetic, neurodegenerative and systemic disease that causes substantial disability, even in young individuals,” he said in a phone interview. “It most commonly starts during childhood or adolescence and leads to the inability to walk within 10, 15, 20 years.”
Pandolfo said patients across Canada are eligible to participate in the observational study, which involves taking a lengthy MRI, some blood tests and a physical examination. He said patients who volunteer will help researchers better understand the disease and help guide the development of therapies.
“While there’s no cure, we have a number of potential promising competing treatments that we need to test in the most efficient possible way,” he said. “So this is basically the goal: to learn more about the disease and how it affects the central nervous system, the brain, in particular, and the cerebellum.”
Pandolfo says Friedreich’s ataxia is caused by a mutation that “has probably arisen only once in human history.” It is only found in some regions of the world, most commonly in western and southern Europe.
It is also more prevalent in Quebec and in Acadian regions of the Maritimes, home to the ancestors of many people from western France, where it is comparatively common, Pandolfo says.
Two people living with Friedreich’s ataxia who volunteered for the study say they’re happy to help contribute to new research, and to get the chance to connect with people who understand their illness.
