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Stran 1 iz 5676 rezultatov
Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.
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Prijava / prijava
An increasing number of reports describe mutations in mitochondrial DNA coding regions, especially in mitochondrial DNA- encoded nicotinamide adenine dinucleotide dehydrogenase subunit genes of the respiratory chain complex I, as causing early-onset Leigh syndrome. The authors report the molecular
Ataxia Severity Correlates with White Matter Degeneration in Spinocerebellar Ataxia Type 7.
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OBJECTIVE
There is a scarcity of information on the effect of white matter degeneration in patients with spinocerebellar ataxia type 7. Therefore, we investigated the WM integrity in a large group of patients with spinocerebellar ataxia type 7 by using Tract-Based Spatial
Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA study.
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Prijava / prijava
Friedreich ataxia (FRDA) is traditionally associated with neuropathology in the cerebellar dentate nucleus and spinal cord. Growing evidence also suggests involvement of the cerebral and cerebellar cortices, although reports of structural abnormalities remain mixed. This study assessed the
Olivopontocerebellar atrophy and Friedreich's ataxia: neuropsychological consequences of bilateral versus unilateral cerebellar lesions.
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Prijava / prijava
This chapter deals with neuropsychological disturbances in patients with bilateral cerebellar damage (BCD), i.e., epileptic patients chronically receiving phenytoin, patients with olivopontocerebellar atrophy (OPCA), and Friedreich's ataxia (FA) versus those with unilateral cerebellar damage (UCD),
Quantitative analysis of upper-limb ataxia in patients with spinocerebellar degeneration.
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Prijava / prijava
Spinocerebellar degeneration (SCD) is a progressive neurodegenerative disorder in which cerebellar ataxia causes motor disability. There are no widely applicable methods for objective evaluation of ataxia in SCD. An objective system to evaluate ataxia is necessary for use in clinical trials of newly
Auditory dysfunction in Friedreich ataxia: result of spiral ganglion degeneration.
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Prijava / prijava
We performed behavioral audiometric tests and brainstem auditory evoked potentials in four patients with Friedreich ataxia. None of the patients had symptomatic hearing difficulties. Results of the audiometric tests pointed to a disorder of the eighth nerve. In none of the patients could we elicit
"Hot cross bun" sign in multiple system atrophy with predominant cerebellar ataxia: a comparison between proton density-weighted imaging and T2-weighted imaging.
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OBJECTIVE
To investigate whether proton density-weighted imaging can detect the "hot cross bun" sign in the pons in multiple system atrophy with predominant cerebellar ataxia significantly better than T2-weighted imaging at 3T.
METHODS
Sixteen consecutive patients with multiple system atrophy with
Peroneal muscular atrophy with ataxia and partial myoclonic epilepsy.
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Prijava / prijava
Two brothers, 17 and 11 years old, presented with pes cavus, absence of deep tendon reflexes, péripheral vibratory sensory loss, ataxia, tremor, nystagmus, dysarthria and partial myoclonic epilepsy. Electromyography showed severe slowing of motor conduction velocity in the lower extremities and
A new mouse allele of glutamate receptor delta 2 with cerebellar atrophy and progressive ataxia.
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Prijava / prijava
Spinocerebellar degenerations (SCDs) are a large class of sporadic or hereditary neurodegenerative disorders characterized by progressive motion defects and degenerative changes in the cerebellum and other parts of the CNS. Here we report the identification and establishment from a C57BL/6J mouse
Degree of cerebellar ataxia correlates with three-dimensional mri-based cerebellar volume in pure cerebellar degeneration.
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Prijava / prijava
The aim of the present study was to compare the severity of cerebellar ataxia as measured by the International Cooperative Ataxia Rating Scale (ICARS) by Trouillas et al. [ J Neurol Sci 1997;145:205-211] with the cerebellar volume in chronic cerebellar disease. Fifteen patients with pure cerebellar
[A case of adult-onset Huntington disease presenting with spasticity and cerebellar ataxia, mimicking spinocerebellar degeneration].
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We report an adult-onset case of Huntington disease presenting with spasticity and cerebellar ataxia. The patient, a 47-year old woman, was admitted to our clinic because of progressive involuntary movements. Her elder brother suffered from the similar symptoms. Neurologically, she had quick temper,
Stratification of disease progression in a broad spectrum of degenerative cerebellar ataxias with a clustering method using MRI-based atrophy rates of brain structures.
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BACKGROUND
The rate of disease progression differs among patients with degenerative cerebellar ataxia. The uncertain natural course in individual patients hinders clinical trials of promising treatments. In this study, we analyzed atrophy changes in brain structures with cluster analysis to find
Preliminary study of intravenous amantadine treatment for ataxia management in patients with probable multiple system atrophy with predominant cerebellar ataxia.
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Prijava / prijava
OBJECTIVE
Multiple system atrophy with predominant cerebellar ataxia is a disabling neurologic disease. However, effective management has not yet been established. We conducted a short-term, open-label preliminary study to assess the benefits of intravenous amantadine treatment in patients with
Pure cerebello-olivary degeneration of Marie, Foix, and Alajouanine presenting with progressive cerebellar ataxia, cognitive decline, and chorea.
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Parenchymatous cerebellar cortical atrophy (CCA) usually presents with a "pure" cerebellar ataxia. We describe a patient with a sporadic, late-onset progressive cerebellar ataxia plus cognitive decline and chorea who had CCA at post mortem. We discuss this unique case in the current context of
Macular degeneration as a common cause of visual loss in spinocerebellar ataxia type 1 (SCA1) patients.
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