Results 11 to 20 of about 4,301 (184)
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
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
Journal of the Neurological Sciences, 2003 There has been rapid progress in the understanding of several aspects of Friedreich's ataxia (FA) since the gene mutation was identified in 1996. At the clinical level, now it is possible to confirm that the majority of patients fullfilling clinical criteria for classic FA have the FA gene mutation but some do not, indicating genetic heterogeneity ...
openaire +10 more sources
Journal of Neurology, Neurosurgery & Psychiatry, 2004 Friedreich’s ataxia, a spinocerebellar degeneration, is an autosomal recessive disease of the cerebellum, spinal cord, and peripheral nerves. Symptoms generally begin before puberty and include an ataxic gait, dysarthria, loss of reflexes, and variably nystagmus, kyphoscoliosis, and pes cavus.
openaire +2 more sources
Dysphagia in Friedreich Ataxia [PDF]
Dysphagia, 2017 The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictors of penetration/aspiration during swallowing. We also investigated the psychosocial impact of dysphagia on individuals with FRDA.
Megan J. Keage +4 more
openaire +3 more sources
Cardiomyopathy of Friedreich Ataxia [PDF]
Journal of Neurochemistry, 2013 AbstractFriedreich's ataxia is a rare hereditary, predominantly neurologically defined multisystem disorder of mitochondrial function. Although the gene defect has been identified, the precise pathophysiology of the deficient mitochondrial protein, frataxin, is unknown. Besides the characteristic features of spinocerebellar ataxia the heart may also be
Frank, Weidemann +6 more
openaire +2 more sources
Neurological Research and Practice, 2019 Introduction Currently, no treatment that delays with the progression of Friedreich ataxia is available. In the majority of patients Friedreich ataxia is caused by homozygous pathological expansion of GAA repeats in the first intron of the FXN gene ...
Kathrin Reetz +22 more
doaj +1 more source
Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family
Clinical Case Reports, 2021 Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family.
Cheick A. K. Cissé +17 more
doaj +1 more source