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Archives of Internal Medicine, 1949
CLASSIC descriptions of the ataxias in textbooks are short and convincing, comprising two or three paragraphs, and frequently giving the impression that all of importance is known and well established. Certain "classic, pathognomonic" characteristics are described, with the knowledge of which one can make the diagnosis infallibly: For example ...
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CLASSIC descriptions of the ataxias in textbooks are short and convincing, comprising two or three paragraphs, and frequently giving the impression that all of importance is known and well established. Certain "classic, pathognomonic" characteristics are described, with the knowledge of which one can make the diagnosis infallibly: For example ...
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2018
The nervous system is vulnerable to intrinsic and extrinsic metabolic perturbations. In particular, the cerebellum, with its large Purkinje cells and its high density of neurons and glial cells, has high metabolic demand and is highly vulnerable to metabolic derangements.
Fatima Y, Ismail +2 more
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The nervous system is vulnerable to intrinsic and extrinsic metabolic perturbations. In particular, the cerebellum, with its large Purkinje cells and its high density of neurons and glial cells, has high metabolic demand and is highly vulnerable to metabolic derangements.
Fatima Y, Ismail +2 more
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Functional ataxia in a specialized ataxia center
Parkinsonism & Related DisordersFunctional gait is a disorder of ambulation and balance internally inconsistent and incongruent with the phenotypic spectrum of neurological gait disorders.This paper aims to clinically characterize patients with functional ataxia.Patients with functional ataxia were analyzed out of 1350 patients in Ataxia Unit of the Federal University of São Paulo ...
Luíza Alves Corazza +7 more
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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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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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Current Opinion in Neurology, 1994
This review summarizes recent advances that have taken place in the field of inherited ataxias. There is increasing understanding of these disorders, primarily because of advances in the field of molecular genetics. Although the Friedreich's ataxia gene has not been cloned yet, there is increasing information about the precise location of this mutation.
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This review summarizes recent advances that have taken place in the field of inherited ataxias. There is increasing understanding of these disorders, primarily because of advances in the field of molecular genetics. Although the Friedreich's ataxia gene has not been cloned yet, there is increasing information about the precise location of this mutation.
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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 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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Pediatrics In Review, 1987
Ataxia is a vague term. Disease processes from the cerebral cortex down to the muscle can produce ataxia. Thus, it is not a localizable symptom, and other aspects of the clinical state are necessary to clarify the localization of the disorder. The neurologic history and examination will clarify the nature of acute ataxia.
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Ataxia is a vague term. Disease processes from the cerebral cortex down to the muscle can produce ataxia. Thus, it is not a localizable symptom, and other aspects of the clinical state are necessary to clarify the localization of the disorder. The neurologic history and examination will clarify the nature of acute ataxia.
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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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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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The Cerebellum, 2008
Gluten ataxia is an immune-mediated disease triggered by the ingestion of gluten in genetically susceptible individuals. It should be considered in the differential diagnosis of all patients with idiopathic sporadic ataxia. Early diagnosis and treatment with a gluten free diet can improve ataxia and prevent its progression.
Marios, Hadjivassiliou +4 more
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Gluten ataxia is an immune-mediated disease triggered by the ingestion of gluten in genetically susceptible individuals. It should be considered in the differential diagnosis of all patients with idiopathic sporadic ataxia. Early diagnosis and treatment with a gluten free diet can improve ataxia and prevent its progression.
Marios, Hadjivassiliou +4 more
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BMJ, 2009
A 41 year old woman was admitted to hospital with a one week history of transient episodes of blurred vision and progressive dysarthria, incoordination and ataxia, such that she could no longer stand. Three months earlier she had experienced the gradual onset of a mild occipital headache and episodes of transient blurred vision.
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A 41 year old woman was admitted to hospital with a one week history of transient episodes of blurred vision and progressive dysarthria, incoordination and ataxia, such that she could no longer stand. Three months earlier she had experienced the gradual onset of a mild occipital headache and episodes of transient blurred vision.
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