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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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Developmental Medicine & Child Neurology, 1906
SUMMARY The object of this paper has been to attempt to classify certain cases of ataxia occurring in children which do not fall under well-known types of diseases. The cases have been regarded from their clinical rather than their pathological aspect, and from their clinical features it would seem probable that the symptoms are due to ...
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SUMMARY The object of this paper has been to attempt to classify certain cases of ataxia occurring in children which do not fall under well-known types of diseases. The cases have been regarded from their clinical rather than their pathological aspect, and from their clinical features it would seem probable that the symptoms are due to ...
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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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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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Neurological Sciences, 2008
Conventional MRI in patients presenting with progressive ataxia demonstrates the three main patterns of macroscopic damage, namely spinal atrophy, olivopontocerebellar atrophy and cortical cerebellar atrophy. Moreover it contributes to the diagnosis of fragile-X tremor ataxia syndrome and siderosis of the CNS.
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Conventional MRI in patients presenting with progressive ataxia demonstrates the three main patterns of macroscopic damage, namely spinal atrophy, olivopontocerebellar atrophy and cortical cerebellar atrophy. Moreover it contributes to the diagnosis of fragile-X tremor ataxia syndrome and siderosis of the CNS.
openaire +3 more sources