MUHC doctors reach breakthrough against rare disease
Leukodystrophies are rare but deadly diseases affecting about one child in 4,700.
Source: montrealgazette.com
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Leukodystrophies are rare but deadly diseases affecting about one child in 4,700.
Researchers have discovered a previously unknown genetic cause of the neurodegenerative disease late-onset cerebellar ataxia.
Researchers at the University of Miami Miller School of Medicine, McGill University and other institutions have found that a well-concealed genetic variation in the gene FGF14, called a DNA tandem repeat expansion, causes a common form of late-onset cerebellar ataxia, a brain disorder that interferes with coordinated movement.