Results 171 to 180 of about 153,533 (209)
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Neurologic Clinics, 1985
Clinical, biochemical, and genetic studies have brought clarity to many issues concerning the inherited ataxias. The classification, diagnosis, and therapy of hereditary ataxias are now better understood although many questions remain. Basic defects are identified in some disorders.
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Clinical, biochemical, and genetic studies have brought clarity to many issues concerning the inherited ataxias. The classification, diagnosis, and therapy of hereditary ataxias are now better understood although many questions remain. Basic defects are identified in some disorders.
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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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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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Dominant ataxias and Friedreich ataxia
Current Opinion in Neurology, 2003The present review covers recent developments in inherited ataxias. The discovery of new loci and genes has led to improved understanding of the breadth and epidemiology of inherited ataxias. This has resulted also in more rational classification schemes.
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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
openaire +2 more sources
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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The Neurologist, 2001 This review examines the causes of ataxias in children. It is a relatively common manifestation of neurological diseases in children. The etiology of ataxia covers a broad range, from infections to rare hereditary metabolic diseases. A systematic approach is required to make the correct diagnosis.The more common causes of ataxias in children are ...
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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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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
openaire +3 more sources