Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030567 (Parkinson's disease)
 63,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report the results of treatment of hereditary extrapyramidal diseases with new preparations acting upon neurotransmitter systems. Patients with torsion dystonia, Huntington's chorea, Parkinson's disease, hereditary tremor, myoclonic epilepsy were followed-up for several years.. The best results in akinetic-rigidity syndromes (Parkinson's disease, rigid froms of torsion dystonia, Hallevorden-Spatz disease) were obtained with L-DOPA (including Sinemet, Nacom, Madopar) and in many patients these preparations were given in combination with other drugs (cholinolytic agents, Midantan) which contributed to compensation of the disturbed equilibrium of neurotransmitter systems and reduction of side effects. For decreasing the side effects of L-DOPA (hyperkineses of dystonic type, chorea and myoclonia) preparations from the group of phenothiazine and diazepine were given. In many cases improvement was achieved by slover increase of L-DOPA doses. In the hyperkinetic syndromes (Huntington's chorea, idiopathic tremor, myoclonic epilepsy, hyperkinetic torsion dystonia) preparations of phenothiazine, butyrophenone and new drugs active on the GABAergic system (Baclophen, Lyoresal, Pantogam) and diazepine (Clonazepam) were used. The analysis of the results shows that disturbed equilibrium of central neurotransmitters plays and important role in the pathogenesis of hereditary extrapyramidal system diseases.
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PMID:[Pathogenetic treatment of various hereditary extrapyramidal disorders with new drugs]. 732 7

The kinematic properties of upper limb trajectories of simple reaching movements have been analysed in patients with idiopathic torsion dystonia (ITD). The velocity profiles differed from those of neurologically healthy subjects by being less symmetric. In several patients movement execution was slow due to a longer deceleration time. This phenomenon was even more conspicuous in the absence of visual feedback from the limb and was accompanied by a significant decrease in the final accuracy. These findings show that patients with ITD have deficits in central motor mechanisms beyond abnormal muscle activation patterns. Similarities between kinematic properties of patients with ITD and patients with Parkinson's disease including the deterioration of motor performance in ITD in the absence of visual feedback from the limb, suggest the existence of abnormalities in sensorimotor integration in both diseases.
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PMID:Kinematic properties of upper limb trajectories in idiopathic torsion dystonia. 789 12

Twenty index patients with hereditary essential tremor and their kindreds were studied to define the phenotype of this condition. Ninety-three first degree and 38 more distant relatives were examined; 53 definite and 18 possible secondary cases were identified. The age of tremor onset was bimodally distributed with a median at approximately 15 years. Segregation analysis indicated autosomal dominant inheritance and penetrance was virtually complete by the age of 65 years. There were no examples of the disease skipping a generation. Men and women were affected in equal proportions. About 50% of cases were alcohol responsive. In the majority of families alcohol responsiveness was either consistently present or did not occur, but in 20% of kindreds definite heterogeneity of responsiveness was encountered within each family. The typical phenotype was a mild symmetrical postural tremor of the upper limbs. Tremor of the legs, head, facial muscles, voice, jaw and tongue occurred but never in isolation and rest, task specific (e.g. primary writing tremor) and primary orthostatic tremors were not found. Head tremor was invariably mild and 75% was of a 'no-no' type. Dystonia (e.g. torticollis and writer's cramp) were not encountered, a finding which strongly suggests that many previous studies of 'essential tremor' were contaminated by cases of idiopathic or hereditary torsion dystonia. No association with Parkinson's disease was found but classical migraine occurred in approximately 26% of cases and co-segregated with tremor. The severity of arm tremor (assessed using a clinical rating scale and by scoring tremor in Archimedes spirals) and disability increased with advancing age and increasing tremor duration, but there was no correlation between age at tremor onset and either tremor severity or disability. Men and women were affected with equal severity. The sex of the affected parent had no influence on the severity of tremor or the degree of disability experienced by an affected child. Disability commenced in the second decade and progressively increased. All the index patients and 59% of the definite secondary cases had tremor induced disabilities. Eighty-five percent of index patients and 38% of secondary cases also reported some degree of social handicap. Twenty-five percent of index patients and 12% of secondary cases had been compelled to change jobs or retire. Biological fitness was normal.
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PMID:A study of hereditary essential tremor. 792 67

Dystonia is a persistent attitude or posture in one or other of the extremes of athetoid movement. It may take the form of an over-extension or over-flexion of the hand, torsion of the spine, with arching and twisting of the back or forceful closure of the eyes and a fixed grimace. Dystonia is classified into idiopathic and symptomatic dystonia. Idiopathic dystonia is further divided into generalized, focal and segmental dystonia. Generalized dystonia covers classical torsion dystonia, paradoxical dystonia, myoclonic dystonia, dystonia with diurnal variation and Dopa-responsive dystonia. Dystonic tic, paroxysmal dystonia and hypnotic dystonia show a dystonic posture, although they are also accompanied by various other involuntary movements such as athetosis or chorea. Torticollis, writer's cramp or blepharospasm is assigned to the focal dystonia and Meige syndrome to the segmental dystonia. Symptomatic dystonia is observed in various neurological disorders, including cerebrovascular diseases, Parkinson's disease and Wilson's disease.
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PMID:[Dystonia]. 827 58

Most positron emission tomography (PET) studies of regional cerebral function in idiopathic torsion dystonia (ITD) have failed to show abnormalities, but there have been few studies of the changes in regional cerebral blood flow (rCBF) that occur during movement in dystonia. Using PET, we have studied six patients with familial generalized ITD both at rest and while moving a joystick with the right hand. The patterns of CBF change obtained were compared with those in six age-matched control subjects. In the dystonia group, free selection of movement was associated with relative increases in rCBF above that observed in control subjects in the left premotor area, the supplementary motor area (SMA), the anterior cingulate cortex, and the left dorsolateral prefrontal area. Subcortical increases were observed within the cerebellum and the putamen. There was a relative decrease in flow through the contralateral primary sensorimotor cortex. These findings contrast with those reported in patients with Parkinson's disease undertaking the same task in which the activity in the SMA and putamen was decreased. We suggest that arm dystonia in ITD is associated with overactivity of the premotor areas, including the SMA, and that this results from release of the thalamus from the normal inhibitory influence of the globus pallidus internal segment. Other abnormalities of basal ganglia control of brain stem centers may be involved in axial dystonia.
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PMID:Increased activation of frontal areas during arm movement in idiopathic torsion dystonia. 953 46

Experience with 366 CT-stereotactic operations in varying movement disorders (Parkinson's disease, cerebral palsy, torsion dystonia, torticollis, hemihyperkinesis) is presented. Different deep structures, such as thalamic nuclei, subthalamic structures, palladium, putamen, caudate nucleus, dentate nucleus, and brachium conjunctivum or combination of these structures, were selected as a stereotactic target point. Anodic or radiofrequency stimulation, implantation of chronic intracerebral electrodes and neurotransplantation were used as methods of exposure. A procedure for CT-stereotactic determination of supratentorial and subtentorial target points is described. CT-guided stereotactic procedures in the treatment of dyskinesia are precise and less traumatic than ventriculography-guided procedures.
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PMID:[The use of computed tomography in stereotaxic operations in dyskinesia patients]. 985 78

Virtual Reality Environments for Psychoneurophysiological Assessment and Rehabilitation-is an European Community funded project (Telematics for health-HC 1053 http:/(/)www.etho.be/ht_projects/vrepar/) whose aim is: to develop a PC based virtual reality system (PC-VRS) for the medical market that can be marketed at a price which is accessible to its possible end-users (hospitals, universities and research centres) and which would have the modular, connectability and interoperability characteristics that the existing systems lack; to develop three hardware/software modules for the application of the PC VRS in psychoneurophysiological assessment and rehabilitation. The chosen development areas are eating disorders (bulimia, anorexia and obesity), movement disorders (Parkinson's disease and torsion dystonia) and stroke disorders (unilateral neglect and hemiparesis). This paper presents the rationale of the different approaches and the methodology used.
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PMID:Virtual reality environments for psycho-neuro-physiological assessment and rehabilitation. 1016 30

Movement disorders is a term applied for a heterogeneous group of diseases and syndromes sharing deficits of voluntary motor function or movement patterns. In clinical practice, the term movement disorders is usually employed to designate those syndromes and diseases that are linked to a pathology or dysfunction of cortico-basal ganglia circuits. The last years have witnessed a rapid expansion in our understanding of the etiological and pathophysiological factors underlying movement disorders such as Parkinson's disease or dystonia. The discovery of new gene mutations is bound to give rise to new insights into the molecular pathogenesis of movement disorders related to neurodegenerative processes. It is already becoming apparent that pathological protein aggregation may be a common link in the neuronal degeneration underlying such diverse entities as spinocerebellar ataxia, idiopathic torsion dystonia and Parkinson's disease. So far, these new findings have not been translated into new forms of symptomatic or preventive therapies. Nevertheless, symptomatic treatment of movement disorders, as evident in the field of Parkinson's disease, is one of the most rewarding and innovative areas of neurological therapy.
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PMID:What is new in movement disorders? 1052 91

TorsinA, a novel protein in which a mutation causes dominant, early onset torsion dystonia, may serve as a chaperone for misfolded proteins that require refolding or degradation. It has been hypothesized that misfolded alpha-synuclein, a protein in which two mutations cause autosomal dominantly inherited Parkinson's disease, serves as a nidus for the development of a Lewy body. We hypothesized that torsinA plays a role in the cellular processing of alpha-synuclein. We demonstrate that anti-torsin antibodies stain Lewy bodies and Lewy neurites in the substantia nigra and cortex. Using sensitive fluorescent resonance energy transfer (FRET) techniques, we find evidence of a close association between torsinA and alpha-synuclein in Lewy bodies.
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PMID:A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study. 1143 81

Generalized dystonia is known as a type of movement disorder in which pharmacotherapeutic options are very limited. Deep Brain Stimulation (DBS) is well established for Parkinson's disease (PD) and tremor dominant movement disorders. We report on two cases of generalized dystonia which were successfully treated by chronic high frequency stimulation in the Globus pallidus internus (GPI). Two 26 and 27 years old males suffered from severe torsion dystonia and multisegmental dystonia of the lower limbs. Case 1 is a familiar type of dystonia (DYT1 positive). The onset of symptoms in both cases was at age 7. The complaints were initially treated with orally administered benzodiazepines, anticholinergic drugs, later by baclofen and L-DOPA. However there was no response. Case 2 was a patient with a history of left side dominated dystonia since the age of 8. It was first diagnosed as a psychogenic movement disorder. Prior to surgery he was treated with L-DOPA, anticholinergics, Baclofen without any effect. There was only a limited effect on high doses of diazepam. The patient is DYT1 negative. The target point was on both sides the GPI. Intraoperative computerized tomography (CT) and ventriculography (VG) were used for target setting. Furthermore microrecordings were helpful to ensure the exact electrode position. Surgery was performed under analgosedation. Two weeks after surgery we first observed a relief of symptoms in both cases. A significant reduction in the Burke-Fahn-Marsden-Dystonia Movement Rating Scale was observed at the 6 month follow-up (case 1: 95%, case 2: 80%). In case 1 a slight dystonic movement of the left ankle was the only remaining symptom under stimulation. The medication was continuously reduced. At the 24 month follow-up the effect of stimulation remained unchanged. However high stimulation parameters are required to maintain an optimal effect (mean 3.5 V, 400 microseconds, 145 Hz).
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PMID:Deep brain stimulation of the globus pallidus internus (GPI) for torsion dystonia--a report of two cases. 1197 95


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