Genetic discovery in Montreal for a rare disease in Newfoundland
Thursday, September 6, 2012 - 14:00
in Biology & Nature
Researchers have discovered the genetic cause of a rare disease reported only in patients originating from Newfoundland: Hereditary spastic ataxia. This condition is characterized by lower-limb spasticity (or stiffness) and ataxia (lack of coordination), the latter leading to speech and swallowing problems, and eye movement abnormalities.