Results 31 to 40 of about 153,533 (209)
Into the depths of ataxia [PDF]
Journal of Clinical Investigation, 2004 Ataxia is a lethal neurological disease characterized by incoordination, postural abnormalities, difficulties with gait, and problems with clarity of speech. The etiology of ataxia is divided equally between hereditary and sporadic forms. Regardless of cause, the cerebellar cortex is often a target in ataxia. Thus, how a disruption in cerebellar cortex
openaire +3 more sources
Test–retest reliability of the Friedreich’s ataxia rating scale
Annals of Clinical and Translational Neurology, 2020 The modified Friedreich Ataxia Rating Scale (mFARS) is a disease specific, exam‐based neurological rating scale commonly used as a outcome measure in clinical trials.
Christian Rummey +5 more
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Results of a randomized double‐blind study evaluating luvadaxistat in adults with Friedreich ataxia
Annals of Clinical and Translational Neurology, 2021 Objectives Friedreich ataxia (FRDA) is a rare disorder with progressive neurodegeneration and cardiomyopathy. Luvadaxistat (also known as TAK‐831; NBI‐1065844), an inhibitor of the enzyme d‐amino acid oxidase, has demonstrated beneficial effects in ...
Hao Wang +7 more
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Are Gait Stereotypies a Marker for Neurodegeneration in Down Syndrome? A Prospective Observation
Tremor and Other Hyperkinetic Movements, 2016 No abstract necessary for Letters.
José L. Pedroso +2 more
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Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA
Frontiers in Neurology, 2020 Spinocerebellar ataxias are progressive neurodegenerative disorders primarily affecting the cerebellum. Although the first disease-causing gene was identified nearly 30 years ago, there is no known cure to date, and only a few options exist for ...
Chih-Chun Lin +4 more
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Calcium Deregulation: Novel Insights to Understand Friedreich’s Ataxia Pathophysiology
Frontiers in Cellular Neuroscience, 2018 Friedreich’s Ataxia (FRDA) is a neurodegenerative disorder, characterized by degeneration of dorsal root ganglia, cerebellum and cardiomyopathy. Heart failure is one of the most common causes of death for FRDA patients.
Rosella Abeti +4 more
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Endurance exercise ameliorates phenotypes in Drosophila models of spinocerebellar ataxias
eLife, 2022 Endurance exercise is a potent intervention with widespread benefits proven to reduce disease incidence and impact across species. While endurance exercise supports neural plasticity, enhanced memory, and reduced neurodegeneration, less is known about ...
Alyson Sujkowski +4 more
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JIMD Reports, 2021 Background d‐lactate, one of the isomers of lactate, exists in a low concentration in healthy individuals and it can be oxidized to pyruvate catalyzed by d‐lactate dehydrogenase.
Anna Ka‐Yee Kwong +5 more
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PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption
Frontiers in Cellular Neuroscience, 2018 Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by an expansion of a polyglutamine tract within the ATXN1 gene.
Suran Nethisinghe +9 more
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