Results 31 to 40 of about 3,355 (169)
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
doaj +1 more source
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
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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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PLoS ONE, 2013 Many neurodegenerative disorders share a common susceptibility to oxidative stress, including Alzheimer's, Parkinson Disease, Huntington Disease and Friedreich's ataxia.
Jonathan Jones +4 more
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5-Hydroxytryptophan in Friedreich’s Ataxia
Pediatric Neurology Briefs, 1995 The effect of the levorotatory form of 5-hydroxytryptophan (approx 1 gm/day/orally) on cerebellar symptoms in 26 patients with Friedreich’s ataxia was evaluated in a double-blind drug-placebo study by the Ataxia Research Center, Hopital Neurologique ...
J Gordon Millichap
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Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller +6 more
wiley +1 more source
Clinical and Genetic Diagnosis of Friedreich’s Ataxia
Pediatric Neurology Briefs, 1998 The clinical diagnostic criteria and genetic testing for Friedreich’s ataxia are reviewed from the National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
J Gordon Millichap
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel +8 more
wiley +1 more source
Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source
Friedreich's ataxia: the vicious circle hypothesis revisited
BMC Medicine, 2011 Friedreich's ataxia, the most frequent progressive autosomal recessive disorder involving the central and peripheral nervous systems, is mostly associated with unstable expansion of GAA trinucleotide repeats in the first intron of the FXN gene, which ...
Camadro Jean-Michel +3 more
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