Fatigue is frequent and multifactorial in Friedreich's ataxia
Scientific News
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Fatigue is frequent and multifactorial in Friedreich's ataxia
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Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia
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Friedreich ataxia (FRDA) is a common inherited ataxia, caused by an expanded GAA repeat sequence in the Frataxin (FXN) gene. The proprioceptive system, which enters the cerebellum through the cerebellar peduncles, is a primary focus of pathology. In this study, we investigate the relationship of clinical and genetic data with diffusion-tensor imaging (DTI) indices reflecting white matter integrity of the cerebellar peduncles.
Triple Therapy with Darbepoetin Alfa, Idebenone, and Riboflavin in Friedreich's Ataxia: an Open-Label Trial
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Minimal objective evidence exists regarding management of Friedreich's ataxia (FRDA). Antioxidant and recombinant human erythropoietin therapies have been considered potential treatments to slow progression of FRDA in a small number of studies. The primary objective of the current study was to test the efficacy, safety, and tolerability of triple therapy-darbepoetin alfa, idebenone, and riboflavin-in FRDA in a clinical pilot study.
High-dose thiamine improves the symptoms of Friedreich's ataxia
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Friedreich's ataxia (FRDA) is an autosomal recessive inherited disorder characterised by progressive gait and limb ataxia, dysarthria, areflexia, loss of position sense and a progressive motor weakness of central origin. Some observations indicate that all symptoms of FRDA ataxia could be the manifestation of a thiamine deficiency because of enzymatic abnormalities. Two patients with FRDA were under rehabilitative treatment from February 2012 to February 2013. The scale for assessment and rating of ataxia was performed.
Read More: High-dose thiamine improves the symptoms of Friedreich's ataxia
Development of Frataxin Gene Expression Measures for the Evaluation of Experimental Treatments in Friedreich's Ataxia
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BACKGROUND:
Friedreich ataxia is a progressive neurodegenerative disorder caused by GAA triplet repeat expansions or point mutations in the FXN gene and, ultimately, a deficiency in the levels of functional frataxin protein. Heterozygous carriers of the expansion express approximately 50% of normal frataxin levels yet manifest no clinical symptoms, suggesting that therapeutic approaches that increase frataxin may be effective even if frataxin is raised only to carrier levels. Small molecule HDAC inhibitor compounds increase frataxin mRNA and protein levels, and have beneficial effects in animal models of FRDA.
- Downstream MMR processing contributes to GAA·TTC repeat expansion
- Cardiac remodeling of intercalated discs in Friedreich's ataxia
- Therapeutic Strategies in Friedreich's ataxia
- Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons
- Cerebello-cerebral connectivity deficits in Friedreich ataxia