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Evaluating the progression of Friedreich ataxia and its treatment

✍ Scribed by Martin B. Delatycki

Book ID
106094313
Publisher
Springer
Year
2009
Tongue
English
Weight
239 KB
Volume
256
Category
Article
ISSN
0340-5354

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## Abstract 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

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## Abstract Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by ataxia of all four limbs, dysarthria, and arreflexia. A variety of measures are currently used to quantify disease progression, including the Friedreich Ataxia Rating Scale, examiner‐rated functional