Results 41 to 50 of about 46,226 (179)
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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Friedreich ataxia: an overview [PDF]
Journal of Medical Genetics, 2000 Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to rapid advances in the understanding of the pathogenesis of Friedreich ataxia. About 98% of mutant alleles have an expansion of a GAA trinucleotide repeat in
M B, Delatycki +2 more
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Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review
Arquivos Brasileiros de Cardiologia, 2002 OBJECTIVE - Cardiac evaluation (clinical, electrocardiographic and echocardiographic) of 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia (FA) related to the frequency and the size of GAA repeats (unstable expansion of trinucleotide ...
Lilian Maria José Albano +6 more
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Friedreich's Ataxia in the Elderly
Journal of International Medical Research, 1995 Friedreich's ataxia is one of the best defined and most common forms of hereditary ataxia of unknown aetiology. It is transmitted in an autosomal recessive manner, appearing sporadically, usually in childhood or adolescence. The case of an elderly patient with a possible diagnosis of late-onset Friedreich's ataxia is reported; this is thought to be the
A, Abyad, E, Kligman
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A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich’s Ataxia
Case Reports in Neurological Medicine, 2016 Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive condition that is caused by a mutation in the alpha tocopherol transfer protein gene.
Michael Bonello, Partha Ray
doaj +1 more source
PLoS ONE, 2016 There is no current approved therapy for the ultimately lethal neuro- and cardio-degenerative disease Friedreich's ataxia (FA). Finding minimally-invasive molecular biomarkers of disease progression and drug effect could support smaller, shorter clinical
Genki Hayashi, Gino Cortopassi
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Delayed-onset Friedreich's ataxia revisited
, 2016 Background: Friedreich's ataxia usually occurs before the age of 25. Rare variants have been described, such as late-onset Friedreich's ataxia and very-late-onset Friedreich's ataxia, occurring after 25 and 40 years, respectively.
Pandolfo, Massimo +31 more
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Molecular analysis of Friedreich's ataxia locus in the Indian population
, 2000 Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in the frataxin gene. We have carried out the first molecular analysis at the Friedreich's ataxia locus in the Indian population. Materials
Choudhry, S +5 more
core +2 more sources