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Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease caused by mutations in the gene encoding for the mitochondrial protein frataxin, is characterized by ataxia and gait instability, immobility, and eventual… Click to show full abstract
Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease caused by mutations in the gene encoding for the mitochondrial protein frataxin, is characterized by ataxia and gait instability, immobility, and eventual death. We evaluated corneal confocal microscopy (CCM) quantification of corneal nerve morphology as a novel, noninvasive, in vivo quantitative imaging biomarker for the severity of neurological manifestations in FRDA.
Keywords:
microscopy;
friedreich ataxia;
disease;
corneal confocal;
confocal microscopy
Journal Title: Annals of Neurology
Year Published: 2018
Link to full text (if available)
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Journal Title: Annals of Neurology
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!