Results 21 to 30 of about 3,355 (169)
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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Nature Communications, 2023 Oxidative stress is associated with cardiovascular and neurodegenerative diseases. Here we report studies of neurovascular oxidative stress in chemogenetic transgenic mouse lines expressing yeast D-amino acid oxidase (DAAO) in neurons and vascular ...
Shambhu Yadav +12 more
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In vivo overexpression of frataxin causes toxicity mediated by iron-sulfur cluster deficiency
Molecular Therapy: Methods & Clinical Development, 2022 Friedreich's ataxia is a rare disorder resulting from deficiency of frataxin, a mitochondrial protein implicated in the synthesis of iron-sulfur clusters.
Claudia Huichalaf +20 more
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AMRC Open Research, 2023 Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the spectrum of symptoms associated with the various types of ataxia, and their progression over ...
Julie Greenfield +4 more
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Journal of Neuroinflammation, 2022 Background Friedreich’s ataxia is a rare hereditary neurodegenerative disease caused by decreased levels of the mitochondrial protein frataxin. Similar to other neurodegenerative pathologies, previous studies suggested that astrocytes might contribute to
Andrés Vicente-Acosta +3 more
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AMRC Open Research, 2021 Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the symptom patterns associated with the various types of ataxia, and how these diseases progress
Julie Greenfield +4 more
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Diagnosing Friedreich's ataxia [PDF]
Archives of Disease in Childhood, 1998 Clinical diagnosis is still of the utmost importance and following our review of cases diagnosed using the strict criteria, 100% were homozygous for the expansion. However, now that there is a relatively simple direct genetic test, the diagnosis can be considered in more unusual cases.
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European Journal of Case Reports in Internal Medicine, 2015 A 40-year old woman, previously known for Friedreich’s ataxia, presented with shock, profound lactic acidosis and hepatic failure after ingestion of a high dose of nicotinamide, the amide form of vitamin B3.
Nicolas Garin, Pierre Arnold
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Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS
Annals of Clinical and Translational Neurology, 2022 The ever‐increasing body of ataxia research provides opportunities for large‐scale meta‐analyses, systematic reviews, and data aggregation. Because multiple standardized scales are used to quantify ataxia severity, harmonization of these measures is ...
Christian Rummey +5 more
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Respiratory Function in Friedreich’s Ataxia
Children, 2022 Background: Friedreich’s ataxia is an inherited, rare, progressive disorder of children and young adults. It is characterized by ataxia, loss of gait, scoliosis, cardiomyopathy, dysarthria and dysphagia, with reduced life expectancy.
Elena Vinante +4 more
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