Results 11 to 20 of about 153,533 (209)
Neurologic Clinics, 2015 Ataxia is a disorder of balance and coordination resulted from dysfunctions involving cerebellum and its afferent and efferent connections. While a variety of disorders can cause secondary ataxias, the list of genetic causes of ataxias is growing longer.
Umar, Akbar, Tetsuo, Ashizawa
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CONTINUUM: Lifelong Learning in Neurology, 2016 Abstract Purpose of Review: This article introduces the background and common etiologies of ataxia and provides a general approach to assessing and managing the patient with ataxia. Recent Findings: Ataxia is a manifestation of a variety of disease processes, and an underlying ...
Tetsuo, Ashizawa, Guangbin, Xia
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Clinical Recognition of Sensory Ataxia and Cerebellar Ataxia [PDF]
Frontiers in Human Neuroscience, 2021 Ataxia is a kind of external characteristics when the human body has poor coordination and balance disorder, it often indicates diseases in certain parts of the body. Many internal factors may causing ataxia; currently, observed external characteristics, combined with Doctor’s personal clinical experience play main roles in diagnosing ataxia.
Qing Zhang +5 more
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International Physical Medicine & Rehabilitation Journal, 2013 Friedreich’s ataxia is a rare but relentless neurodegenerative disease which affects one individual in 50 000. Being recessive, this hereditary condition is carried by one individual in ca. 120. Although it was first diagnosed in 1863 by Nikolaus Friedreich, it was only in 1996 that the genetic cause became clear: it is due to anomalous expansion of a ...
Iryna Lobanova, Olena Mialovytska
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Journal of the Neurological Sciences, 2003 There has been rapid progress in the understanding of several aspects of Friedreich's ataxia (FA) since the gene mutation was identified in 1996. At the clinical level, now it is possible to confirm that the majority of patients fullfilling clinical criteria for classic FA have the FA gene mutation but some do not, indicating genetic heterogeneity ...
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Dystonia and ataxia progression in spinocerebellar ataxias [PDF]
Parkinsonism & Related Disorders, 2017 Dystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated with different rate of ataxia progression is not known.To study clinical characteristics and ataxia progression in SCAs with and without dystonia.We studied 334 participants with SCA 1, 2, 3 and 6 from the Clinical Research Consortium for ...
George Wilmot +23 more
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NeuroImage: Clinical, 2017 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome, which can be isolated or associated with extracerebellar signs.
G. Olivito +9 more
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Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients
Frontiers in Neurology, 2021 Background: Patients with suspected genetic ataxia are often tested for Friedreich's ataxia (FRDA) and/or a variety of spinocerebellar ataxias (SCAs). FRDA can present with atypical, late-onset forms and so may be missed in the diagnostic process.
Alexander F. Brown +6 more
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Novel Nrf2-Inducer Prevents Mitochondrial Defects and Oxidative Stress in Friedreich’s Ataxia Models
Frontiers in Cellular Neuroscience, 2018 Friedreich’s Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, affecting dorsal root ganglia (DRG), cerebellar dentate nuclei and heart. It is caused by a GAA repeat expansion mutation within the frataxin gene (FXN).
Rosella Abeti +3 more
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