Friedreich’s ataxia (FRDA) is an inherited neurodegenerative disorder characterized by gait disturbance and speech problems. Disease pathology is characterized by progressive damage and loss of nerve tissue particular to the peripheral nerve system. FRDA is caused by the relative deficiency of a mitochondrial protein frataxin resulting from an expanded intronic GAA triplet repeat. While the pre...

The severe reduction in mRNA and protein levels of the mitochondrial protein frataxin, encoded by the X25 gene, causes Friedreich ataxia (FRDA), the most common form of recessive hereditary ataxia. Increasing evidence underlines the pathogenetic role of oxidative stress in this disease. We generated an in vitro cellular model of regulated human frataxin overexpression. We identified, by differe...

Friedreich ataxia (FRDA), the most common hereditary ataxia, is caused by mutations in the frataxin (FXN) gene. The vast majority of FRDA mutations involve expansion of a GAA*TTC-repeat tract in intron 1, which leads to an FXN mRNA deficit. Bisulfite mapping demonstrates that the region adjacent to the repeat was methylated in both unaffected and affected individuals. However, methylation was m...

Friedreich's ataxia (FRDA) is a genetic neurodegenerative disorder caused by transcriptional silencing of the frataxin gene (FXN) due to expansions of GAA repeats in intron 1. FRDA manifests with multiple symptoms, which may include ataxia, cardiomyopathy and diabetes mellitus. Expanded GAA tracts are genetically unstable, exhibiting both expansions and contractions. GAA length correlates with ...

FRDA (Friedreich's ataxia) is a debilitating mitochondrial disorder leading to neural and cardiac degeneration, which is caused by a mutation in the frataxin gene that leads to decreased frataxin expression. The most common cause of death in FRDA patients is heart failure, although it is not known how the deficiency in frataxin potentiates the observed cardiomyopathy. The major proposed biochem...

Introduction: Friedreich’s ataxia (FRDA) is an autosomal recessive inherited disease that damages nervous system and impairs muscle coordination. FRDA usually begins in childhood and is caused by expanded GAA triplet repeat within the first intron of the frataxin (FXN) gene leading to reduced level of mitochondrial protein frataxin. There is no effective treatment for FRDA. If stem cells are tr...

Friedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disease. It affects primarily the nervous system and the heart. Progressive gait and limb ataxia, dysarthria, loss of vibration and proprioceptive sense are characteristic neurological symptoms in FRDA. In approximately 96% of patients FRDA is caused by a triplet guanine-adenine-adenine expansion within the first intron of th...

INTRODUCTION The childhood heart disease of Friedreich's Ataxia (FRDA) is characterized by hypertrophy and failure. It is caused by loss of frataxin (FXN), a mitochondrial protein involved in energy homeostasis. FRDA model hearts have increased mitochondrial protein acetylation and impaired sirtuin 3 (SIRT3) deacetylase activity. Protein acetylation is an important regulator of cardiac metaboli...

EDITOR—Friedreich’s ataxia (FRDA, MIM 229300) is an autosomal recessive, progressive, neurodegenerative disorder. It is the most common of all hereditary ataxias, with an estimated prevalence of 1 in 50 000, and a carrier frequency calculated to be as high as 1 in 90 in white populations. Onset normally occurs between 8 and 15 years of age, presenting as ataxia of gait accompanied by dysarthria...

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...