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Safety and efficacy of individualised exercise and NAD<sup>+</sup> precursor supplementation in patients with Friedreich's ataxia in the USA: a single-centre, 2 × 2 factorial, randomised controlled trial. [PDF]
Lancet NeurolLin KY +26 more
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Safety and efficacy of omaveloxolone v/s placebo for the treatment of Friedreich's ataxia in patients aged more than 16 years: a systematic review. [PDF]
Orphanet J Rare DisUmrao A, Pahuja M, Chatterjee NS.
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Archives of Otolaryngology - Head and Neck Surgery, 1981
To the Editor .—In the recent article entitled "Auditory Function in Friedreich's Ataxia: Electrophysiologic Study of a Family" in theArchives(1981;107:254-256), Shanon and co-workers reported electrophysiologic abnormalities in a family suffering from Friedreich's ataxia.
S, Satya-Murti, A T, Cacace
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To the Editor .—In the recent article entitled "Auditory Function in Friedreich's Ataxia: Electrophysiologic Study of a Family" in theArchives(1981;107:254-256), Shanon and co-workers reported electrophysiologic abnormalities in a family suffering from Friedreich's ataxia.
S, Satya-Murti, A T, Cacace
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Pediatric Neurology, 2003
Friedreich's ataxia, the most common hereditary ataxia, is caused by expansion of a GAA triplet located within the first intron of the frataxin gene on chromosome 9q13. There is a clear correlation between size of the expanded repeat and severity of the phenotype. Frataxin is a mitochondrial protein that plays a role in iron homeostasis.
Gulay, Alper, Vinodh, Narayanan
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Friedreich's ataxia, the most common hereditary ataxia, is caused by expansion of a GAA triplet located within the first intron of the frataxin gene on chromosome 9q13. There is a clear correlation between size of the expanded repeat and severity of the phenotype. Frataxin is a mitochondrial protein that plays a role in iron homeostasis.
Gulay, Alper, Vinodh, Narayanan
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2002
Publisher Summary This chapter discusses the features of Friedreich's ataxia (FRDA) including clinical features, pathological features, and genetic features. Friedreich's ataxia usually presents in adolescence and clinical features includes a progressive limb and gait ataxia, absence of deep-tendon reflexes, extensor plantar responses, and loss of ...
J M, Cooper, J L, Bradley
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Publisher Summary This chapter discusses the features of Friedreich's ataxia (FRDA) including clinical features, pathological features, and genetic features. Friedreich's ataxia usually presents in adolescence and clinical features includes a progressive limb and gait ataxia, absence of deep-tendon reflexes, extensor plantar responses, and loss of ...
J M, Cooper, J L, Bradley
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Clinical Linguistics & Phonetics, 2014
Perceptual speech research in Friedreich ataxia (FRDA) has identified altered nasality as a key component of the dysarthria profile, however the incidence and severity of abnormal nasality remains unknown. Utilizing objective and perceptual methods, data on the relationship between resonance, disease duration, severity, age of onset and genetic ...
Poole, ML +5 more
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Perceptual speech research in Friedreich ataxia (FRDA) has identified altered nasality as a key component of the dysarthria profile, however the incidence and severity of abnormal nasality remains unknown. Utilizing objective and perceptual methods, data on the relationship between resonance, disease duration, severity, age of onset and genetic ...
Poole, ML +5 more
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The vectorcardiogram in Friedreich's ataxia
American Heart Journal, 1974Abstract A Frank system vectorcardiographic analysis has been performed in 10 patients with Friedreich's ataxia. None had clinical signs of heart failure nor kyphoscoliosis. The electrocardiographic patterns were abnormal in five patients showing signs of left ventricular hypertrophy with inversion of T waves and abnormal rotation of the heart axis ...
L, Gregorini, R, Valentini, A, Libretti
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Pediatric Neurology
With the introduction of potential new therapy for Friedreich ataxia, the disorder has taken on a new importance in the world of pediatric neurology. Originally described more than 150 years ago, large scale clinical studies have defined diagnostic criteria and the underlying mutation as a biallelic, unstable expansion of an intronic guanine adenine ...
S.H. Subramony, David R. Lynch
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With the introduction of potential new therapy for Friedreich ataxia, the disorder has taken on a new importance in the world of pediatric neurology. Originally described more than 150 years ago, large scale clinical studies have defined diagnostic criteria and the underlying mutation as a biallelic, unstable expansion of an intronic guanine adenine ...
S.H. Subramony, David R. Lynch
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Mortality in Friedreich Ataxia
Journal of the Neurological Sciences, 2011Although cardiac dysfunction is widely accepted as the most common cause of mortality in Friedreich ataxia (FRDA), no studies have evaluated this since the advent of specific clinical and genetic diagnostic criteria.We performed a retrospective study of FRDA patients to determine cause of death followed by a case-control analysis comparing ...
Amy Y, Tsou +8 more
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