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Ataxias

Clinics in Geriatric Medicine, 2006
Gait disorders in elderly individuals are a major cause of falls and their attendant morbidities. Ataxia is one of the neurologic components of fall risk, as are inattention or confusion, visual impairment, vestibular impairment, subcortical white matter disease, parkinsonism, weakness, sensory loss, orthostasis or arrhythmia with alterations in blood ...
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Ataxia

2013
The approach to the child with ataxia requires a detailed history and careful general and neurological examination as well as selected blood work and brain imaging and increasingly available genetic testing for inherited ataxias that usually have an episodic or progressive presentation.
Sara, Winchester   +2 more
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Hereditary Ataxias

Mayo Clinic Proceedings, 2000
There are many causes of hereditary ataxia. These can be grouped into categories of autosomal recessive, autosomal dominant, and X-linked. Molecularly, many of them are due to trinucleotide repeat expansions. In Friedreich ataxia, the trinucleotide repeat expansions lead to a "loss of function." In the dominant ataxias, the expanded repeats lead to a ...
V G, Evidente   +3 more
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VISUOMOTOR ATAXIA

Brain, 1977
Visuomotor ataxia is a disorder of movement performed under visual control. It can occur in the absence of disturbance of ocular fixation and in the absence of spatial agnosia. This disorder may extend over the whole visual field or it may be localized to one visual half-field, right or left.
P, Rondot, J, de Recondo, J L, Dumas
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Mitochondrial ataxias

2018
Ataxia is one of the most frequent symptoms of mitochondrial disease. In most cases it occurs as part of a syndromic disorder and the combination of ataxia with other neurologic involvement such as epilepsy is common. Mitochondrial ataxias can be caused by disturbance of the cerebellum and its connections, involvement of proprioception (i.e., sensory ...
Hilary J, Vernon, Laurence A, Bindoff
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Ataxia-Telangiectasia

Dermatologic Clinics, 1995
Abstract Abstract SCI-7 Ataxia-telangiectasia (A-T) is the prototype for an expanded group of inherited radiation sensitive disorders that together define the XCIND syndrome: x-ray hypersensitivity, cancer, immunodeficiency, neurological dysfunction, and DNA repair deficiency.
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Genetic ataxia

Neurologic Clinics, 2002
Advances in molecular genetics have led to identification of an increasing number of genes responsible for inherited ataxic disorders. Consequently, DNA testing has become a powerful method to unambiguously establish the diagnosis in some of these disorders; however, there are limitations in this approach.
Alberto L, Rosa, Tetsuo, Ashizawa
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Episodic ataxias

2018
The familial episodic ataxias (EAs) are prototypical channelopathies in the central nervous system clinically characterized by attacks of imbalance and incoordination variably associated with progressive ataxia and variable interictal features. EA1, EA2, and EA6 are caused by mutations in ion channel- and transporter-encoding genes that regulate ...
Joanna C, Jen, Jijun, Wan
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Cerebellar ataxia

Current Treatment Options in Neurology, 2000
There is nothing more discouraging than for a patient to be given a specific diagnosis, then to be told that there is nothing that can be done. Physicians are equally disheartened to see exponential progress being made in the understanding of the pathophysiology of a complex disorder but few direct benefits resulting for their patients. Over the past 5
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Cerebellar ataxias

Current Opinion in Neurology, 2009
The term 'cerebellar ataxias' encompasses the various cerebellar disorders encountered during daily practice. Patients exhibit a cerebellar syndrome and can also present with pigmentary retinopathy, extrapyramidal movement disorders, pyramidal signs, cortical symptoms (seizures, cognitive impairment/behavioural symptoms), and peripheral neuropathy. The
Manto, Mario, Marmolino, Daniele
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