نتایج جستجو برای: friedreich ataxia
تعداد نتایج: 17893 فیلتر نتایج به سال:
Friedreich ataxia is an autosomal recessive, inherited neuro- and cardio-degenerative disorder characterized by progressive ataxia of all four limbs, dysarthria, areflexia, sensory loss, skeletal deformities, and hypertrophic cardiomyopathy. Most disease alleles have a trinucleotide repeat expansion in the first intron of the FXN gene, which decreases expression of the encoded protein frataxin....
Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition, FRDA, has led to rapid advances in the understanding of the pathogenesis of Friedreich ataxia. About 98% of mutant alleles have an expansion of a GAA trinucleotide repeat in intron 1 of the gene. This leads to reduc...
OBJECTIVE To assess the efficacy of idebenone on neurological function in patients with Friedreich ataxia. DESIGN Randomized, double-blind, placebo-controlled intervention trial. SETTING Children's Hospital of Philadelphia and the University of California at Los Angeles. PARTICIPANTS Seventy ambulatory pediatric patients (age, 8-18 years) with a baseline International Cooperative Ataxia R...
Friedreich ataxia, the most common type of inherited ataxia, is itself caused in most cases by a large expansion of an intronic GAA repeat, resulting in decreased expression of the target frataxin gene. The autosomal recessive inheritance of the disease gives this triplet repeat mutation some unique features of natural history and evolution. Frataxin is a mitochondrial protein that has homologu...
BACKGROUND Friedreich ataxia is caused by an expanded GAA triplet-repeat sequence in intron 1 of the FXN gene that results in epigenetic silencing of the FXN promoter. This silencing mechanism is seen in patient-derived lymphoblastoid cells but it remains unknown if it is a widespread phenomenon affecting multiple cell types and tissues. METHODOLOGY / PRINCIPAL FINDINGS The humanized mouse mo...
BACKGROUND Friedreich ataxia is an autosomal recessive disease with no available therapy. Clinical trials with erythropoietin in Friedreich ataxia patients have yielded conflicting results, and the long-term effect of the drug remains unknown. METHODS We designed a double-blind, placebo-controlled, multicenter trial to test the efficacy of epoetin alfa on 56 patients with Friedreich ataxia. T...
Friedreich ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the frataxin gene. In order to unravel frataxin function we developed monoclonal antibodies raised against different regions of the protein. These antibodies detect a processed 18 kDa protein in various human and mouse tissues and cell lines that is severely reduced in Friedreich ataxia patient...
how to cite this article: heidari mm, khatami m, houshmand m, mahmoudi e, nafissi sh .increased prevalence 12308 a > g mutation in mitochondrialtrnaleu (cun) gene associated with earlier age of onset in friedreich ataxia. iranian journal of child neurology 2011;5(4):25-31. objective friedreich ataxia (frda) is an inherited recessive disorder. mitochondrial dna is a candidate modifying factor fo...
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