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 ...

Friedreich’s ataxia (FRDA) is a form of neuropathy that was fi rst described by Nikolaus Friedreich in a series of 5 papers published from 1863-1877 (1). Freidreich was a third generation physician from Heidelberg, Germany. His grandfather was the fi rst to describe idiopathic facial paralysis, also known as Bell’s palsy. Friedreich trained to be a pathologist under Rudolf Virchow, who proposed...

Friedreich ataxia (FRDA), the commonest of the inherited ataxias, is a multisystem neurodegenerative condition that affects ocular motor function. We assessed eye movement abnormalities in 20 individuals with genetically confirmed FRDA and compared these results to clinical measures. All subjects were assessed with infrared oculography. Fifteen individuals underwent a full protocol of eye movem...

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...

Friedreich ataxia (FRDA) is a neurodegenerative disease affecting motor and sensory systems. This study aimed to investigate the presence and perceptual consequences of auditory neuropathy (AN) in affected individuals and examine the use of personal-FM systems to ameliorate the resulting communication difficulties. Ten individuals with FRDA underwent a battery of auditory function tests and the...

Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with r...

Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with r...

BACKGROUND Most patients with Friedreich ataxia (FRDA) have abnormal GAA triplet repeat expansions in both X25 genes. The size of the GAA expansion in the shorter of the 2 expanded alleles correlates significantly with parameters of clinical severity and is inversely related to the age at onset. OBJECTIVES To describe the clinical and molecular genetic findings in a patient with very late-ons...

objective(s) the mitochondrial defects in friedreich's ataxia have been reported in many researches. mitochondrial dna is one of the candidates for defects in mitochondrion, and complex i is the first and one of the largest catalytic complexes of oxidative phosphorylation (oxphos) system. materials and methods we searched the mitochondrial nd4l gene for mutations by ttge and sequencing on ...