Results 81 to 90 of about 4,103 (182)
Evaluation of the Cases with Friedreich Ataxia
Gulhane Medical Journal, 2013 Friedreich ataxia is an autosomal recessive neurodegenerative disease, which is the most common cause of inherited ataxias. About 95% of the patients demonstrate an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene on chromosome 9q13. This leads to reduced levels of frataxin which has an important role in iron homeostasis. Friedreich
Kurul S.H. +5 more
openaire +3 more sources
Epigenetic-based therapies for Friedreich ataxia
Frontiers in Genetics, 2014 Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous GAA repeat expansion mutation within the first intron of the FXN gene, leading to inhibition of FXN transcription and thus reduced ...
Chiranjeevi eSandi +5 more
doaj +1 more source
A longitudinal VBM study monitoring treatment with erythropoietin in patients with Friedreich ataxia
Acta Radiologica Short Reports, 2014 Background Recombinant human erythropoietin (rhuEPO) has received considerable attention because of its neuroprotective properties. It has recently been reported that rhuEPO increases frataxin levels in combination with clinical improvement in rhuEPO ...
Wolfram Santner +4 more
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Cardiomyopathy as the first manifestation of Friedreich’s ataxia
Autopsy and Case Reports, 2021 We present the case of a female patient diagnosed in childhood with Friedreich Ataxia (FA). At the age of 6, she developed left congestive heart failure with cardiomyopathy, as evident on echocardiogram. Neurologic signs only appeared at age 7, including
Rafael Tuzino Leite Neves Maffei +4 more
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Novel Mitochondrial Homoplasmic T4216C Mutation in Iranian Patients with Friedreich Ataxia
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2010 Introduction: The mitochondrial defects in Friedreich ataxia (FRDA) have been reported in many researches. Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by decreased expression of the Frataxin protein.
M Heidari, M Khatami
doaj
Tissue Iron in Friedreich Ataxia
Journal of Integrative NeuroscienceHeart, dentate nucleus, and dorsal root ganglia (DRG) are targets of tissue damage in Friedreich ataxia (FA). This report summarizes the histology and histopathology of iron in the main tissues affected by FA.
Arnulf H Koeppen
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Análisis molecular en pacientes colombianos con Ataxia de Friedreich
Acta Biológica Colombiana, 2001 Identificar entre los pacientes que sufren algún tipo de ataxia hereditaria, las formas progresivas tipo Friedreich (FRDA), determinando el tipo de herencia y correlacionar el genotipo encontrado con las manifestaciones genonpicas.
C. Durán +3 more
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Cardiomyopathy in Friedreich’s Ataxia [PDF]
European Heart Journal, 2017 Pablo, Salazar +3 more
openaire +2 more sources