Predictors of progression in patients with Friedreich ataxia

• Published in: Movement disorders Vol. 23; no. 14; pp. 2026 - 2032
• Main Authors: La Pean, Alison, Jeffries, Neal, Grow, Chelsea, Ravina, Bernard, Di Prospero, Nicholas A.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 30.10.2008; Wiley
• Subjects: Adolescent; Adult; Aged; Biological and medical sciences; Cardiomyopathies - etiology; Child; Child, Preschool; Confidence Intervals; Dietary Supplements; Disease Progression; Female; Friedreich ataxia; Friedreich Ataxia - complications; Friedreich Ataxia - diagnosis; Friedreich Ataxia - genetics; Friedreich Ataxia - therapy; GAA expansion; genotype; Humans; Interview, Psychological; Male; Medical sciences; medication; Membrane Glycoproteins - genetics; Middle Aged; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis; Multivariate Analysis; Neurology; phenotype; Predictive Value of Tests; Risk Factors; Scoliosis - etiology; Vitamins - administration & dosage; Young Adult; Human; Nervous system diseases; GAA expansion; Genotype; medication; Genetic disease; Cerebral disorder; Chemotherapy; Phenotype; Treatment; Central nervous system disease; Degenerative disease; Friedreich ataxia; Spinal cord disease

Friedreich ataxia is an inherited, progressive, neurodegenerative disorder that is clinically heterogeneous. It is caused by a trinucleotide (GAA) repeat expansion resulting in frataxin loss and oxidative stress. We assessed clinical features including the development of cardiomyopathy and scoliosis...