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Movement Disorders, 2011 AbstractThe past 25 years have seen enormous progress in the deciphering of the genetic and molecular basis of ataxias, resulting in improved understanding of their pathogenesis. The most significant milestones during this period were the cloning of the genes associated with the common spinocerebellar ataxias, ataxia telangiectasia, and Friedreich ...
Thomas Klockgether
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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.
Piyush K. Singh +2 more
openaire +4 more sources
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.
Piyush K. Singh +2 more
openaire +4 more sources
Journal of the Neurological Sciences, 2022
Ataxia is not a common feature in Parkinson's disease. Nevertheless, some rare forms of parkinsonism have ataxia as one of the main features in their clinical picture, especially those with juvenile or early-onset. On the other side, in cerebellar degenerative diseases, parkinsonism might accompany the typical symptoms and even become predominant in ...
Giulia Lazzeri +2 more
openaire +3 more sources
Ataxia is not a common feature in Parkinson's disease. Nevertheless, some rare forms of parkinsonism have ataxia as one of the main features in their clinical picture, especially those with juvenile or early-onset. On the other side, in cerebellar degenerative diseases, parkinsonism might accompany the typical symptoms and even become predominant in ...
Giulia Lazzeri +2 more
openaire +3 more sources
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 ...
openaire +2 more sources
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 ...
openaire +2 more sources
2010
This chapter discusses the large variety of diagnoses in childhood where ataxia may be a prominent feature. Ataxia with clumsiness may be nonprogressive in childhood. Acute and subacute ataxias may result from intoxication, infections, inflammatory processes, trauma, or other problems. Chronic progressive ataxias include the autosomal recessive ataxias,
Harvey S. Singer +3 more
openaire +2 more sources
This chapter discusses the large variety of diagnoses in childhood where ataxia may be a prominent feature. Ataxia with clumsiness may be nonprogressive in childhood. Acute and subacute ataxias may result from intoxication, infections, inflammatory processes, trauma, or other problems. Chronic progressive ataxias include the autosomal recessive ataxias,
Harvey S. Singer +3 more
openaire +2 more sources
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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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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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
openaire +3 more sources