Results 11 to 20 of about 3,973 (174)
Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale
Annals of Clinical and Translational NeurologyThe placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular ...
Christian Rummey +2 more
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Perspectives of the Friedreich ataxia community on gene therapy clinical trials [PDF]
Molecular Therapy: Methods & Clinical DevelopmentGene therapy is a potential treatment for Friedreich ataxia, with multiple programs on the horizon. The purpose of this study was to collect opinions about gene therapy from individuals 14 years or older with Friedreich ataxia or parents/caregivers of ...
Shandra J. Trantham +8 more
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Nerve Ultrasound in Patients With Friedreich Ataxia. [PDF]
Muscle NerveABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Kneer K +9 more
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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.
P.E. Hart, A.H.V. Schapira
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Auditory neuropathy in mice and humans with Friedreich ataxia
Annals of Clinical and Translational Neurology, 2023 Objective Recent studies have found that human Friedreich ataxia patients have dysfunction of transmission in the auditory neural pathways. Here, we characterize hearing deficits in a mouse model of Friedreich ataxia and compare these to a clinical ...
Gary Rance +5 more
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SAGE Open Medical Case Reports, 2021 Friedreich ataxia is the most common form of hereditary ataxia. Heart involvement in Friedreich ataxia is common and can include increased left ventricular wall thickness, atrial fibrillation, and in the later stages, a reduction of left ventricular ...
Michele Russo +7 more
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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
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Journal of Child Neurology, 2012 Friedreich ataxia is a rare disorder characterized by an autosomal recessive pattern of inheritance. The disease is noted for a constellation of clinical symptoms, notably loss of coordination and a variety of neurologic and cardiac complications.
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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 ...
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Anesthetic Management on a Patient with Friedreichs Ataxia
Medicine Science, 2013 Friedreichs ataxia is a rare (1:50 000) autosomal recessively inherited neurodegenerative disorder. Findings such as weakness in skeletal muscles, progressive difficulty in walking and extremity ataxia are prominent. Problems such as cardiac, endocrine,
Ulku Ozgul +5 more
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