Gold quantum clusters are therapeutic in preclinical models of Friedreich ataxia.

Friedreich ataxia, although rare, is the most prevalent inherited ataxia. Recent insight into the disease pathogenesis is creating new hope for effective therapies. The purposes of this update are: (1) to review the etiology, presentation, and progression of Friedreich ataxia and (2) to describe a comprehensive physical therapist examination emphasizing valid and reliable performance measuremen...

BACKGROUND Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas. METHODS We assessed hepatic mitochondrial function by (13)C-methionine-breath-test in 16 Friedreich ataxia patients and matched healthy controls. RESULTS Patients exhaled significantly smaller amount...

This study tested the ability of A0001 (α-tocopheryl quinone; EPI-A0001), a potent antioxidant, to improve in vitro measures, glucose metabolism, and neurological function in Friedreich ataxia. We used an in vitro study of protection from cell toxicity followed by a double-blind, randomized, placebo-controlled trial of 2 doses of A0001 in 31 adults with Friedreich ataxia. The primary clinical t...

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 ...

objective mitochondrial dna (mtdna) is considered a candidate modifier factor for neuro-degenerative disorders. the most common type of ataxia is friedreich's ataxia (fa). the aim of this study was to investigate different parts of mtdna in 20 iranian fa patients and 80 age-matched controls by polymerase chain reaction (pcr) and automated dna sequencing methods to find any probable point mutati...

how to cite this article: heidari mm , khatami m, pourakrami j. novel point mutations in frataxin gene in iranian patients with friedreich’s ataxia. iran j child neurol. 2014 winter; 8(1):32-36.   objective friedreich’s ataxia is the most common form of hereditary ataxia with autosomal recessive pattern. more than 96% of patients are homozygous for gaa repeat extension on both alleles in the fi...

BACKGROUND Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterized by progressive limb and gait ataxia due to proprioceptive loss, often complicated by cardiomyopathy, diabetes and skeletal deformities. Friedreich ataxia is the most common hereditary ataxia, with a reported prevalence of 1:20 000 - 1:50 000 in Central Europe. Previous reports from south No...

Background: Defects in the protein frataxin give rise to Friedreich ataxia. Results: A new Friedreich ataxia model using fission yeast has been generated, and its phenotype and proteome characterized. Conclusion: Frataxin absence triggers a complete iron starvation program, sufficient to generate all the associated respiratory defects. Significance: Our new model system may contribute to deciph...