Results 11 to 20 of about 9,290 (208)
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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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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Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy [PDF]
, 2013 Copyright © 2013 Chiranjeevi Sandi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly ...
Al-Mahdawi, S, Pook, MA, Sandi, C
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Hepatic mitochondrial dysfunction in Friedreich Ataxia
BMC Neurology, 2011 Background Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas.
Stüwe Sven H +6 more
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The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues [PDF]
, 2007 Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to reduced expression of frataxin protein.
C. Sandi +7 more
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The current state of biomarker research for Friedreich's ataxia: a report from the 2018 FARA biomarker meeting [PDF]
, 2019 The 2018 FARA Biomarker Meeting highlighted the current state of development of biomarkers for Friedreich's ataxia. A mass spectroscopy assay to sensitively measure mature frataxin (reduction of which is the root cause of disease) is being developed ...
Blair, Ian A. +8 more
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HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.
PLoS ONE, 2008 BackgroundFriedreich ataxia, an autosomal recessive neurodegenerative and cardiac disease, is caused by abnormally low levels of frataxin, an essential mitochondrial protein.
Myriam Rai +8 more
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Friedreich ataxia- pathogenesis and implications for therapies
Neurobiology of Disease, 2019 Friedreich ataxia is the most common of the hereditary ataxias. It is due to homozygous/compound heterozygous mutations in FXN. This gene encodes frataxin, a protein largely localized to mitochondria.
Martin B. Delatycki +1 more
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