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Pàgina 1 des de 981 resultats
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.
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BACKGROUND
Dystonia, cerebellar atrophy, and cardiomyopathy constitute a rare association.
METHODS
We used homozygosity mapping and whole exome sequencing to determine the mutation, western blot and immunolabelling on cultured fibroblasts to demonstrate the lower expression and the mislocalization
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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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
Life-threatening respiratory failure due to cranial dystonia after dental procedure in a patient with multiple system atrophy.
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We report on a woman with a an 8-year history of multiple system atrophy with predominance of parkinsonism who developed jaw-locking oromandibular dystonia within hours after insertion of ill-fitting dentures. Dystonia spread rapidly to involve other facial muscles and the larynx causing stridor
Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.
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BACKGROUND
Dystonia syndromes constitute a heterogeneous group of phenotypes that may be caused by different heredodegenerative, metabolic, or genetic diseases.
OBJECTIVE
To describe the characteristics of an unusual dystonia-plus phenotype associated with cerebellar atrophy.
METHODS
We selected
Progressive dystonia with optic atrophy in a Jewish-Iraqi family.
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The combination of progressive dystonia and optic atrophy is extremely rare and its morphological, metabolic and genetic basis is unknown. In a family of 9 children (8 males) born to consanguineous Israeli-Jewish-Iraqi parents, we identified four brothers who developed the syndrome at the end of the
The relationship between arm dystonia in corticobasal degeneration and handedness.
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Corticobasal degeneration is a progressive neurodegenerative disease involving the cerebral cortex and basal ganglia and leads primarily to motor symptoms and cognitive dysfunction. Unilateral arm dystonia is a common presenting symptom in many patients with corticobasal degeneration. This study
Dystonia and cerebellar degeneration in the leaner mouse mutant.
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Cerebellar degeneration is traditionally associated with ataxia. Yet, there are examples of both ataxia and dystonia occurring in individuals with cerebellar degeneration. There is also substantial evidence suggesting that cerebellar dysfunction alone may cause dystonia. The types of cerebellar
Laryngeal dystonia in the course of multiple system atrophy: a cause of postoperative respiratory insufficiency.
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Multiple system atrophy (MSA) is an adult onset, incurable neurodegenerative disease, characterized by symptoms of nervous system failure. Occurrence of laryngeal dystonia indicates increased risk of sudden death caused by airway occlusion. We present the case report of 63-year-old patient with
[Extrapyramidal rigidity with dystonia, optic atrophy and bilateral putaminal lesions in an adolescent. Juvenile form of Leigh's disease (author's transl)].
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A 19-year-old man presented with an apparently non-familial neurological disorder that had progressed from the age of 6 years. Dystonia of the trunk and limbs with extrapyramidal rigidity, dysarthria, a pyramidal syndrome with spasticity of the lower limbs, bilateral optic atrophy, and nystagmiform
Severe dysphagia after botulinum toxin injection for cervical dystonia in multiple system atrophy.
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A 71-year-old woman was treated by botulinum toxin (BTX) type A injections for cervical dystonia related to a multiple system atrophy (MSA). A few days later and persisting for the next 4 months, she developed a severe dysphagia, requiring nasogastric feeding. This implicates cautious use of BTX in
Positron emission tomographic studies of the subcortical degenerations and dystonia.
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Reported PET findings in subcortical and corticobasal degenerations, and in dystonia, are summarized in Table 3. It can be seen that, although PET is not a diagnostic technique, clinical examination combined with PET findings can help to distinguish between the various akinetic-rigid syndromes, with
Deep brain stimulation in a dentatorubral-pallidoluyisian atrophy patient with myoclonic dystonia.
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We describe a patient with myoclonic dystonia caused by dentatorubral-pallidoluyisian atrophy (DRPLA), which was successfully controlled with bilateral deep brain stimulation (DBS) of the globus pallidus internus (GPi). DRPLA is a rare disease which can progressively cause a loss or degeneration of
Eye movement deficits in X-linked dystonia-parkinsonism are related to striatal degeneration.
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BACKGROUND
X-linked dystonia-parkinsonism (XDP) is characterized by the unique transition of dystonia to parkinsonism and striatal degeneration. Slowing of saccades on clinical examination has been taken as suggestive of a progressive supranuclear palsy (PSP) phenotype.
OBJECTIVE
To elucidate
Dystonia in corticobasal degeneration.
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OBJECTIVE
To characterize the clinical features, particularly dystonia, in patients with clinically diagnosed or pathologically proven corticobasal degeneration (CBD).
BACKGROUND
Although dystonia has been reported in many neurodegenerative disorders, it has not been studied in CBD. Dystonia, often
Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.
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