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Journal of Voice, 2017
Friedreich Ataxia (FRDA) is the most common hereditary ataxia, with dysarthria as one of its key clinical signs.To describe the voice profile of individuals with FRDA to inform outcome marker development and goals of speech therapy.Thirty-six individuals with FRDA and 30 age-matched controls provided sustained vowel and connected speech samples. Speech
Vogel, Adam P. +6 more
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Friedreich Ataxia (FRDA) is the most common hereditary ataxia, with dysarthria as one of its key clinical signs.To describe the voice profile of individuals with FRDA to inform outcome marker development and goals of speech therapy.Thirty-six individuals with FRDA and 30 age-matched controls provided sustained vowel and connected speech samples. Speech
Vogel, Adam P. +6 more
openaire +6 more sources
Pharmacotherapy for Friedreich Ataxia
CNS Drugs, 2009Friedreich ataxia (FA) is a progressive genetic neurological disorder associated with degeneration of the dorsal columns, spinocerebellar tracts and other regions of the nervous system. The disorder results from mutations in the gene referred to as FXN.
Amy Y, Tsou +3 more
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Dominant ataxias and Friedreich ataxia
Current Opinion in Neurology, 2003The present review covers recent developments in inherited ataxias. The discovery of new loci and genes has led to improved understanding of the breadth and epidemiology of inherited ataxias. This has resulted also in more rational classification schemes.
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Cognition in Friedreich Ataxia
The Cerebellum, 2012Friedreich ataxia (FRDA) is the most frequent of the inherited ataxias. However, very few studies have examined the cognitive status of patients with genetically defined FRDA. Our aim was to study cognitive performance of FRDA patients taking into account the motor problems characteristic of this clinical population.
Antonieta, Nieto +5 more
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Pregnancy associated with friedreich ataxia
Obstetrics & Gynecology, 1990The pregnancy of a woman with Friedreich ataxia was complicated by the onset of preterm labor and preeclampsia. Administration of magnesium sulfate (MgSO4.7H2O) in the usual intravenous dosage resulted in the dramatic development of profound motor weakness and respiratory distress.
J P, Bruner, J D, Yeast
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2006
Friedreich ataxia is due to insufficient levels of frataxin, a mitochondrial iron chaperone that shields this metal from reactive oxygen species (ROS) and renders it bioavailable as Fe II. Frataxin participates in the synthesis of iron-sulfur clusters (ISCs), cofactors of several enzymes, including mitochondrial and cytosolic aconitase, complexes I, II
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Friedreich ataxia is due to insufficient levels of frataxin, a mitochondrial iron chaperone that shields this metal from reactive oxygen species (ROS) and renders it bioavailable as Fe II. Frataxin participates in the synthesis of iron-sulfur clusters (ISCs), cofactors of several enzymes, including mitochondrial and cytosolic aconitase, complexes I, II
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Dysarthria in Friedreich’s ataxia
2009Extended abstract ...
Folker, JE +5 more
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Myocarditis in Friedreich's ataxia
The Journal of Pathology and Bacteriology, 1946openaire +2 more sources