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Psychological resilience in patients with Friedreich ataxia: a 6-year longitudinal analysis [PDF]
Neurological Research and PracticeBackground Friedreich ataxia is a debilitating multisystem neurodegenerative disorder. Depression is more prevalent in individuals with Friedreich ataxia (14%-36%) than in the general European population (8.5%). While psychological resilience is known to
Ruth Eumann +7 more
doaj +2 more sources
Pediatric NeurologyWith the introduction of potential new therapy for Friedreich ataxia, the disorder has taken on a new importance in the world of pediatric neurology. Originally described more than 150 years ago, large scale clinical studies have defined diagnostic criteria and the underlying mutation as a biallelic, unstable expansion of an intronic guanine adenine ...
Williams CT, Maheshwary A.
europepmc +3 more sources
Emerging Therapies in Friedreich’s Ataxia
Neurodegenerative Disease Management, 2016 Friedreich's ataxia (FRDA) is an inherited, progressive neurodegenerative disease that typically affects teenagers and young adults. Therapeutic strategies and disease insight have expanded rapidly over recent years, leading to hope for the FRDA population.
Tetsuo Ashizawa +2 more
exaly +6 more sources
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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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
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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
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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 ...
openaire +10 more sources
Increased brain tissue sodium concentration in Friedreich ataxia: A multimodal MR imaging study
NeuroImage: Clinical, 2022 In patients with Friedreich ataxia, structural MRI is typically used to detect abnormalities primarily in the brainstem, cerebellum, and spinal cord. The aim of the present study was to additionally investigate possible metabolic changes in Friedreich ...
Janna Krahe +11 more
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