Friedreich's ataxia is the most common inherited autosomal recessive ataxia and is characterized by progressive degeneration of the peripheral and central nervous systems and cardiomyopathy. This disease is caused by the silencing of the FXN gene and reduced levels of the encoded protein, frataxin. Frataxin is a mitochondrial protein that functions primarily in iron-sulfur cluster synthesis. Th...

Introduction: Friedreich ataxia (FRDA) is a multi-system autosomal-recessive disease, the most common one of the genetically inherited ataxias. FRDA occurs as a consequence of mutations in the frataxin gene, with an expansion of a GAA trinucleotide. Ataxia with vitamin E deficiency (AVED) is characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich...

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...

BACKGROUND Pelvic symptoms are distressing symptoms experienced by patients with Friedreich's Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual symptoms in FRDA. METHODS Questionnaire scores measuring LUTS, bowel and sexual symptoms were analysed with descriptive statistics as a cohort and as subgroups (Early/Late-onse...

Friedreich's ataxia (FRDA) is the most common inherited human ataxia and results from a deficiency of the mitochondrial protein, frataxin (FXN), which is encoded in the nucleus. This deficiency is associated with an iron-sulfur (Fe-S) cluster enzyme deficit leading to progressive ataxia and a frequently fatal cardiomyopathy. There is no cure. To determine whether exogenous replacement of the mi...

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...

Keywords: Friedreich's ataxia Hypertrophic cardiomyopathy Interferon gamma Frataxin Freidreich's ataxia (FRDA) is an autosomal recessive hereditary disease with a prevalence of about 1 in 30,000, characterized by progressive neurologic impairment [1]. In addition, almost all patients have abnormal echocardiograms and more than 50% develop hypertro-phic cardiomyopathy [2]. Survival in FRDA is de...

Friedreich's ataxia (FRDA) is the most common inherited that causes progressive damage of nervous systems and performance deterioration physical movements. FRDA baseline data analysis plays a crucial role in advancing disease research, where main obstacle comes from collection primarily due to degenerative symptoms patients. Inspired by nowadays popular collaborative filtering (CF) method, new ...

BACKGROUND Friedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN gene, resulting in down-regulation of frataxin expression. Studies of cell and mouse models have revealed a role for the mismatch repair (MMR) MutS-heterodimer complexes and the PMS2 component of the MutLα complex in the dynamics o...