Results 31 to 40 of about 3,973 (174)
Vitamin E Level In Friedreich’s Ataxic Phenotype Patients In Four Major Hospitals In Baghdad
مجله كليه طب الكندي, 2019 Background: Friedreich ataxia (FRDA) is the most common form of inherited ataxia, comprising one-half of all hereditary ataxias with a carrier rate between 1 in 60 to 1 in 90 and with a disease prevalence of 1 per 29,000.
Ahmed Hasan Ahmed
doaj +1 more source
Expression of human frataxin is regulated by transcription factors SRF and TFAP2.
PLoS ONE, 2010 BackgroundFriedreich ataxia is an autosomal recessive neurodegenerative disease caused by reduced expression levels of the frataxin gene (FXN) due to expansion of triplet nucleotide GAA repeats in the first intron of FXN.
Kuanyu Li +7 more
doaj +1 more source
Ataxia with Vitamin E Deficiency
Pediatric Neurology Briefs, 1997 Vitamin E adminstration (100 U/kg daily) resulted in improvements in ataxia, motor strength, and mobility in 2 siblings of a consanguineous Bedouin family with Friedreich ataxia and low serum vitamin E levels treated at Soroka Medical Center, Beer Sheva,
J Gordon Millichap
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More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes
Tremor and Other Hyperkinetic Movements, 2016 Background: The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia.
Toni S. Pearson
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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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Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia. [PDF]
PLoS ONE, 2009 BACKGROUND: Friedreich ataxia originates from a decrease in mitochondrial frataxin, which causes the death of a subset of neurons. The biochemical hallmarks of the disease include low activity of the iron sulfur cluster-containing proteins (ISP) and ...
Vincent Paupe +6 more
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Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel +5 more
wiley +1 more source
Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein +13 more
wiley +1 more source
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