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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently combined, include cerebellar ataxia, motor neuron disease, dystonia, psychosis, neurovegetative troubles with different severity. Morphological changes are evident in rectal, muscle or nerve biopsies. Minor clinical changes are described in carriers from a family. A chronic GM2 gangliosidosis has to be suspected in any atypical case with the above-mentioned symptoms with autosomal-recessive inheritance.
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PMID:The clinical aspects of adult hexosaminidase deficiencies. 184 98

This review concentrates on the definition and classification of degenerative movement disorders in which Parkinsonian symptoms are often prominent. The pathological spectrum and clinical manifestations of Lewy body disease are described, and associations with Alzheimer's disease and motor neuron disease are explored. A classification of pallidonigral degenerations is based on clinical features, distribution of pathology, and morphological abnormalities; some of these patients have mild nigral degeneration and no Parkinsonian features. Many other juvenile and familial Parkinsonian cases are not included among the pallidonigral degenerations. Most of these latter syndromes have been organised into preliminary groups, in particular, autosomal dominant dystonia-Parkinson syndrome, juvenile Parkinsonian disorder and autosomal dominant Lewy body disease.
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PMID:Neuropathology in movement disorders. 254 27

Neurofilaments are a major component of the axonal cytoskeleton and their abnormal accumulation is a prominent feature of the cytopathology encountered in several neurodegenerative diseases. Thus, an attractive and widely held model of pathogenesis involves the participation of disrupted neurofilaments as a common toxic intermediate. Here, in direct contrast to this hypothesis, we show that two neurodegenerative disease models in the mouse, dystonia musculorum (dt) and a superoxide dismutase 1 (SOD1)-mediated form of human motor neuron disease (amyotrophic lateral sclerosis, ALS), progress with little or no abatement on a transgenic background in which neurofilaments are withheld from the axonal compartment. By specifically excluding a necessary role for axonal neurofilaments, our observations redefine the components of the pathogenic pathway leading to axon disruption in these two degenerative diseases.
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PMID:Pathogenesis of two axonopathies does not require axonal neurofilaments. 946 35

The frontotemporal dementias are a group of relatively new and evolving clinical and pathologic entities. The predominant frontal-temporal atrophy causes a variety of clinical syndromes, usually dominated by disturbances in behavior, mood, and speech. The motor neuron disease-inclusion dementia (MNDID) subtype is characterized by the accumulation of specific intraneuronal ubiquitin-immunoreactive inclusions with the complete absence of tau immunoreactivity. We present a patient with the clinical and neuroimaging characteristics of a highly asymmetric neurodegenerative condition distinguished by limb rigidity, bradykinesia, dystonia with an alien limb phenomenon, cortical sensory findings, and limb apraxia. His premorbid diagnosis was cortical-basal ganglionic degeneration but he had the typical histologic features of a frontotemporal dementia of the MNDID subtype.
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PMID:Motor neuron disease-inclusion dementia presenting as cortical-basal ganglionic degeneration. 1043 7

Gilles de la Tourette syndrome (TS) and idiopathic focal torsion dystonia are both movement disorders in which the pathologic process is thought to arise within the basal ganglia. However, despite their possible functional links, they are clinically distinct and are generally considered to have different underlying etiologies. There are several reports in the literature that suggest a relationship between eye winking tics, excessive blinking, and blepharospasm and a report of the coexistence of tics and dystonia. We describe a three-generation family in which TS and dystonias cosegregate. In total, eight patients were affected, five with dystonia and three with TS/facial tics. One of the patients with historic evidence of dystonia subsequently died of motor neuron disease. The identification of this family further strengthens the evidence in favor of an etiologic relationship between some cases of Gilles de la Tourette syndrome and focal dystonia.
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PMID:Do the same genes predispose to Gilles de la Tourette syndrome and dystonia? Report of a new family and review of the literature. 1049 45

A group of neurodegenerative diseases is outlined that affect cortical and subcortical areas of the brain. These diseases give rise to atypical forms of dementia and, unlike Alzheimer's disease (AD), are often associated with neurological symptoms. Clinical symptoms reflect the localization of the degenerative process rather than the nature of the underlying histopathology. Degeneration of the frontal and anterior temporal lobe presents initially with behavioral alterations, but later in the course, impairment of cognition and activities of daily living develops. Posterior cortical atrophy affects the parietal and occipital association cortices and causes complex visual disturbances. In corticobasal degeneration (CBD) the focus of pathology includes the frontoparietal cortex and several subcortical nuclei, causing symmetrical rigidity, bradykinesia, myoclonus and dystonia. Progressive supranuclear palsy (PSP) involves the frontal, temporal and parietal cortex as well as parts of the brain stem. Clinical features include a hypokinetic rigid syndrome with nuchal dystonia and vertical gaze palsy. Huntington's disease is a prototypical autosomal dominant disorder that affects the extrapyramidal system and causes choreatic movements in combination with personality changes and cognitive deterioration. Amyotrophic lateral sclerosis (ALS) with dementia is a neurodegeneration of the frontotemporal cortex and of the anterior horn of the spinal cord. Behavioral change similar to frontotemporal dementia (FTD) is paralleled or followed by the classic features of motor neuron disease.
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PMID:Uncommon neurodegenerative causes of dementia. 1624 Apr 82

There were two hypotheses of functions of supplementary motor area (SMA): supplementary vs. supramotor, in 1980s. Clinically, SMA can develop a very intractable seizure focus characterized by unique ictal motor symptoms, and its dysfunction is also strongly related to the cardinal clinical features in patients with Parkinson's disease and dystonia. In patients with intractable partial seizures arising from the mesial frontal area who needed clinically chronic implantation of the subdural electrode grids for 1-2 weeks prior to the focus resection, we recorded movement-related cortical potentials or Bereitschaftspotentials (BPs) prior to the voluntary movements. As the results, 1) SMA proper, a caudal part of SMA showed a somatotopy of BP generators in accordance with each part of the voluntary movements in the body, 2) bilateral SMAs were involved in each side of the body movements equally, and the amplitude did not differ from one in the contralateral primary motor area (MI), and thus it proved that SMA proper played as a significant role in preparation for voluntary movements as MI. Furthermore, we clarified the functional significance of pre-SMA with regard to sensorimotor integration, decision making, repetitive rate of voluntary movements, voluntary motor inhibition and negative motor response. Clinically we also clarified the pathophysiology of SMA seizures, and impairment of SMA function in Parkinson's disease and dystonia. We look forward to clinical application of brain potentials from SMA in the field of brain-computer interface such as assessment and restorative approach in patients with spinal cord injury, paraplegia or motor neuron disease.
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PMID:[Human supplementary motor area: a role in voluntary movements and its clinical significance]. 1749 31

Operative neuromodulation is the field of altering electrically or chemically the signal transmission in the nervous system by implanted devices in order to excite, inhibit or tune the activities of neurons or neural networks and produce therapeutic effects. It is a rapidly evolving biomedical and high-technology field on the cutting-edge of developments across a wide range of scientific disciplines. The authors review relevant literature on the neuromodulation procedures that are performed in the spinal cord or peripheral nerves in order to treat a considerable number of conditions such as (a) chronic pain (craniofacial, somatic, pelvic, limb, or due to failed back surgery), (b) spasticity (due to spinal trauma, multiple sclerosis, upper motor neuron disease, dystonia, cerebral palsy, cerebrovascular disease or head trauma), (c) respiratory disorders, (d) cardiovascular ischemia, (e) neuropathic bladder, and (f) bowel dysfunction of neural cause. Functional neuroprosthetics, a field of operative neuromodulation, encompasses the design, construction and implantation of artificial devices capable of generating electrical stimuli, thereby, replacing the function of damaged parts of the nervous system. The present article also reviews important literature on functional neuroprostheses, functional electrical stimulation (FES), and various emerging applications based on microsystems devices, neural engineering, neuroaugmentation, neurostimulation, and assistive technologies. The authors highlight promising lines of research such as endoneural prostheses for peripheral nerve stimulation, closed-loop systems for responsive neurostimulation or implanted microwires for microstimulation of the spinal cord to enable movements of paralyzed limbs. The above growing scientific fields, in combination with biological regenerative methods, are certainly going to enhance the practice of neuromodulation. The range of neuromodulatory procedures in the spine and peripheral nerves and the dynamics of the biomedical and technological domains which are reviewed in this article indicate that new breakthroughs are likely to improve substantially the quality of life of patients who are severely disabled by neurological disorders.
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PMID:An introduction to operative neuromodulation and functional neuroprosthetics, the new frontiers of clinical neuroscience and biotechnology. 1769 51

Clinically, seizures from supplementary motor area (SMA) are characterized by asymmetric bilateral tonic posturing without loss of awareness, and its dysfunction is also strongly related to the clinical cardinal features in patients with Parkinson's disease and dystonia. By investigating Bereitschaftspotentials (BPs) from SMA, the following normal functions are elucidated. 1) SMA proper, a caudal part of SMA showed a somatotopy of BP generators in accordance with each part of the voluntary movements in the body, 2) bilateral SMAs were involved in each side of the body movements equally, and the amplitude did not differ from one in the contralateral primary motor area (MI), 3) pre-SMA was strongly related sensorimotor integration, decision making, repetitive rate of voluntary movements, voluntary motor inhibition and negative motor response. We look forward to clinical application of brain potentials from SMA in the field of brain-computer interface such as assessment and restorative approach in patients with spinal cord injury, paraplegia or motor neuron disease.
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PMID:[Human supplementary motor area: a role in voluntary movements and its clinical significance]. 1821 Jul 84

Neurological histories of great musicians allow for a unique perspective on music physiology. Bedrich Smetana's autobiographical string quartet ends with the musical equivalent of tinnitus in the fourth movement, rendering the youthful and passionate themes of earlier movements moot as the piece ends depicting his ultimately fatal disease, neurosyphilis. Dmitri Shostakovich survived the censorship of Joseph Stalin's apparatchiks but suffered a prolonged form of paralysis attributable to slowly progressive motor neuron disease, although the viola sonata he wrote on his deathbed has become standard repertoire. Glenn Gould was a hypochondriacal pianist with obsessive-compulsive disorder and suspected Asperger syndrome. Vissarion Shebalin and (Ira) Randall Thompson had strokes followed by aphasia without amusia. Domenico Scarlatti provides an example of how even great composers must alter their technical expectations depending upon the skills and body habitus of their chief patrons. The focal dystonia afflicting Leon Fleisher and Gary Graffman catalyzed the discipline of performing arts medicine.
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PMID:Neurological problems of famous musicians: the classical genre. 1933 73


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