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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
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
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
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
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
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
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
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
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
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
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
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
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
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
The recent advances in genetics have helped to unravel the cause of many dystonia syndromes. With the broadening spectrum of genetically defined dystonia syndromes, distinct clinico-radiological phenotypes are a welcome handle to guide the diagnostic