Results 141 to 150 of about 4,301 (184)
Diabetes in Friedreich Ataxia [PDF]
Journal of Neurochemistry, 2013 AbstractDiabetes is a common metabolic disorder in patients with Friedreich ataxia. In this Supplement article, we review the clinical data on diabetes in Friedreich ataxia, and the experimental data from rodent and in vitro models of the disease.
Mariana Igoillo-Esteve +2 more
exaly +4 more sources
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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
openaire +2 more sources
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
openaire +5 more sources
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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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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Mitochondrial pathophysiology in Friedreich's ataxia [PDF]
Journal of Neurochemistry, 2013 AbstractNeurological examination indicates that Friedreich's ataxia corresponds to a mixed sensory and cerebellar ataxia, which affects the proprioceptive pathways. Neuropathology and pathophysiology of Friedreich's ataxia involves the peripheral sensory nerves, dorsal root ganglia, posterior columns, the spinocerebellar, and corticospinal tracts of ...
Francesc Palau, Pilar Gonzalez-Cabo
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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
openaire +2 more sources