Results 11 to 20 of about 4,540 (202)
PLoS ONE, 2013 Many neurodegenerative disorders share a common susceptibility to oxidative stress, including Alzheimer's, Parkinson Disease, Huntington Disease and Friedreich's ataxia.
Jonathan Jones +4 more
doaj +2 more sources
Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy
Annals of Noninvasive Electrocardiology, 2021 Friedreich's ataxia is a rare degenerative neuromuscular disorder, caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, with a broad clinical phenotype characterized by progressive gait and limb ataxia, dysarthria, and loss of ...
Sandra Mastroianno +7 more
doaj +2 more sources
Friedreich's ataxia: the vicious circle hypothesis revisited
BMC Medicine, 2011 Friedreich's ataxia, the most frequent progressive autosomal recessive disorder involving the central and peripheral nervous systems, is mostly associated with unstable expansion of GAA trinucleotide repeats in the first intron of the FXN gene, which ...
Camadro Jean-Michel +3 more
doaj +3 more sources
Friedreich's Ataxia – A Clinical Diagnosis [PDF]
Journal of Krishna Institute of Medical Sciences University, 2015 Friedreich's ataxia (FA) is an autosomal recessive spinocerebellar degenerative disease characterized by hyperexpansion of GAA triplets in Frataxin gene.
Md. Fekarul Islam +3 more
doaj +2 more sources
Neuroinflammation in Friedreich’s Ataxia
International Journal of Molecular Sciences, 2022 Friedreich’s ataxia (FRDA) is a rare genetic disorder caused by mutations in the gene frataxin, encoding for a mitochondrial protein involved in iron handling and in the biogenesis of iron−sulphur clusters, and leading to progressive nervous system damage.
Apolloni, Savina +2 more
openaire +3 more sources
Predictors of loss of ambulation in Friedreich's ataxia
EClinicalMedicine, 2020 Background: Friedreich's ataxia (FRDA) is a characterized by progressive loss of coordination and balance leading to loss of ambulation (LoA) in nearly all affected individuals.
Christian Rummey +2 more
doaj +1 more source
FDA Approves Omaveloxolone based on Successful Moxie Trial Results for Friedreich's Ataxia - Review
Journal of Education, Health and Sport, 2023 Introduction: In recent years, the medical community has witnessed a significant breakthrough in the treatment of Friedreich's Ataxia (FRDA), a rare and debilitating genetic disorder affecting the nervous system.
Krzysztof Kania +5 more
doaj +1 more source
Functional and Gait Assessment in Children and Adolescents Affected by Friedreich's Ataxia: A One-Year Longitudinal Study. [PDF]
PLoS ONE, 2016 Friedreich's ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich's ataxia using Gait Analysis and the Scale for the ...
Gessica Vasco +8 more
doaj +1 more source
Scoliosis in Friedreich’s Ataxia [PDF]
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1982 SUMMARY:The preliminary results based on a three year study on the evolution and management of scoliosis in Friedreich’s ataxia are presented. Thirty-two patients were followed in the Neuromuscular Disease Clinic at Sainte-Justine Hospital where standardized spinal radiographs were taken periodically with the Scoliosis Chariot and the Throne ...
P, Allard +5 more
openaire +2 more sources
Frontiers in Neuroscience, 2020 The identification of efficient markers of disease progression and response to possibly effective treatments is a key priority for slowly progressive, rare and neurodegenerative diseases, such as Friedreich’s ataxia.
Marinela Vavla +17 more
doaj +1 more source