Long-Term Follow-Up of Friedreich Ataxia Patients
نویسندگان
چکیده
منابع مشابه
Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up.
BACKGROUND Friedreich ataxia (FA) is the most frequent autosomal recessive cerebellar ataxia. Although the phenotype is well known, disease progression has not been evaluated in a prospective manner. OBJECTIVE To perform a long-term prospective follow-up of neurological, cardiological, and oculomotor function in patients with FA (FA patients). DESIGN In this open-labeled prospective survey,...
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BACKGROUND Decreased mitochondrial respiratory chain function and increased oxidative stress have been implicated in the pathogenesis of Friedreich ataxia (FRDA), raising the possibility that energy enhancement and antioxidant therapies may be an effective treatment. OBJECTIVE To evaluate the long-term efficacy of a combined antioxidant and mitochondrial enhancement therapy on the bioenergeti...
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Background: Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by guanine-adenine-adenine (GAA) triplet expansions in the FXN gene. Its product, frataxin, which severely reduces in FRDA patients, leads to oxidative damage in mitochondria. The purpose of this study was to evaluate the triple nucleotide repeated expansions in Iranian FRDA patients and to elucidate distinguishable ...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2007
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-21-5-4