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[Diagnosis of supranuclear eye movement disorders. Part II: Vertical and torsional oculomotoricity].

The hallmark of a supranuclear eye movement disorder is functional impairment of one or several types of different eye movements while other types of eye movement remain unchanged. All eye movement information is conveyed via the nuclei of the eye muscle nerves. However, the information for a specific type of eye movement is generated in prenuclear cortical and subcortical areas which are activated depending on the type of eye movement performed. The structures responsible for vertical and torsional oculomotoricity are described as well as the functional relationship between them. A summary of the development of saccades and movements arising from them is also given and the influence of the cerebellum on oculomotor processes is dealt with. In many neurological conditions knowledge about the areas of the brain relevant for eye movement enables a clinical diagnosis to be made or the pathological process to be localized to a specific anatomical area. Examination of eye movements is thus a valuable clinical tool in many neurological and neuro-ophthalmological diseases.

Brain Stem↗

Psychogenic movement disorders in two children.

Two schoolboys with diagnostic criteria for psychogenic movement disorder (PMD) are described: one with bizarre tremor of the right hand and a very slow and cautious gait, another with exaggerated trunk sway and collapses during standing and walking.

Child↗

Surgical complications of functional neurosurgery treating movement disorders: results with anatomical localisation.

Thalamic and pallidal lesions can alleviate movement disorders, but to achieve this safely and efficaciously requires accurate target localization. We report the surgical complications encountered using an anatomical localization technique to create 121 thalamic and pallidal lesions in 79 consecutive patients over a 3 year period. There was no perioperative mortality, although there was one late death indirectly related to surgery. The risk of haemorrhage was 3.3% per lesion made. Anatomical localization offers a relatively safe way of identifying targets for functional neurosurgery, with complication rates which compare favourably with the published literature. Copyright 1999 Harcourt Publishers Ltd.

Journal Article↗

Neuropathology in movement disorders.

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.

Brain↗

A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia.

We describe 19 cases of a familial syndrome consisting of infantile optic atrophy and an early movement disorder in which chorea predominated. About one-half the patients developed spastic paraparesis during the second decade of life. Ataxia and cognitive deficits were common, usually of mild degree. Seventeen of the patients were females. Sixteen had similarly affected siblings, but none had affected parents. All but one belonged to the Iraqi Jewish community in Israel, giving a minimal prevalence rate in this ethnic group of about 1:10,000.

Adolescent↗

Thalamotomy for movement disorders: a critical appraisal.

Symptomatic and functional assessments have been made on a number of patients with a variety of involuntary movement disorders. Difficulties of assessment and their relevance to outcome are discussed. Almost all groups showed a substantial symptomatic improvement but functional improvement was less pronounced.

Humans↗

Electrical spinal cord stimulation for spastic movement disorders.

Clinical results of electrical stimulation of the spinal cord at three different clinics are reported for 53 patients suffering from different spastic movement disorders out of a series of 164 cases tested transitorily. Two-thirds of the cases were multiple sclerosis patients. The difficulty of objective assessment is emphasized. Motor function was principally evaluated and surprisingly showed a marked improvement 1-5 years after the implantation of an electrical device. Other criteria are analyzed and compared with literature. Dorsal cord stimulation seems to be a valuable method for improving the quality of life in a limited percentage of cases of neurological motor disorders.

Adult↗

Moderate to severe periodic limb movement disorder in childhood and adolescence.

The purpose of this study is to review clinical features of children with moderate to severe Periodic Limb Movement Disorder (PLMD). Because of our interest in both Restless Legs Syndrome (RLS) and Attention-Deficit Hyperactivity Disorder (ADHD), many of our patients had one or both of these conditions. We did a retrospective review of 129 children and adolescents who were found to have Periodic Limb Movements in Sleep (PLMS) > 5/hour of sleep. Sixty five had PLMS of 5-10/hour of sleep, 48 had PLMS of 10-25/hour of sleep and 16 had PLMS > 25/hour of sleep. One hundred and seventeen of the original 129 had ADHD. Stimulant medication did not seem to play a role in the production of PLMS. In only 25 of the 129 cases did parents note the presence of PLMS before being specifically asked to look, and even after specific instructions to look, PLMS were not noted by the parents in 39 patients. The sub-group of 16 children and adolescents--6 female, 10 male (average age 11.1 years--range 6-17 years) with moderate to severe PLMS > 25/hour of sleep are described in more detail. Fifteen of the 16 patients had ADHD. Four of the 16 had RLS and 10 of 13 patients for whom a family history was available had a parent with RLS. Two of the 16 patients had their PLMS initially misdiagnosed as seizures. Sleep disturbance was present in all 16 patients and 7 of the 16 had daytime somnolence which resolved with dopaminergic medications. To our knowledge this is the first clinical series of moderate to severe PLMS in children and adolescents to be fully described in the literature.

Adolescent↗

Genetics of movement disorders: an abbreviated overview.

Linkage of the Huntington's disease gene to chromosome 4 in 1983 marked the birth of modern genetics in movement disorders. The discovery that an expanded trinucleotide DNA repeat was central to the mechanism of this disease has been repeated over and over in a growing list of inherited ataxias. In 1997, a different mutation and genetic mechanism was discovered in a severe type of generalized primary torsion dystonia - Oppenheim's dystonia. Before this, only the genetic cause for rare metabolic dystonias was known, notably dopa-responsive (Segawa's) dystonia. In the same year, from the identification of mutation in the alpha-synuclein gene in rare pedigrees with autosomal dominant parkinsonism, arose the concept that Parkinson's disease may be part of a broader group of 'synucleinopathies', in which there is a fundamental defect in protein processing. In the following year, mutations in autosomal recessive juvenile onset parkinsonism were found in a gene called 'parkin'. Parkin mutations are a more common cause of parkinsonism than the rare alpha-synuclein mutations, particularly in young-onset disease. However, a most important understanding, occurring in the last year, has been the relationship between the parkin gene product, alpha-synuclein and abnormal protein degradation in the cell. A unified theory of neuronal death in Parkinson's disease is emerging, pointing to potential new therapies in the future.

Carrier Proteins↗

[Cerebellar movement disorders in monkeys. Comparison of rapidly alternating and slower target movements during cooling of the dentate nucleus (author's transl)].

The effects of short reversible cooling of the dentate nucleus in two groups of 3 and 4 cebus monkeys, with two different types of ipsilateral elbow movements, have been studied. One group was trained to turn a moving handle back and forth rapidly between two mechanical stops, while the second group was trained to move the handle between two target zones. Brief blocking of the dentate nucleus caused a delayed termination of contraction of the agonistic muscles (hypermetria) near the mechanical stop for very rapid, ballistic, alternating arm movements and, consequently, delayed initiation of the antagonistic return movement. The resulting increase of the duration of a single movement was not caused by a reduction of the peak acceleration of the movement. For the slower target movements, dentate nucleus cooling caused shortening of agonistic muscular contraction (hypometria) with corresponding, saccadic movement corrections. The frequency of the "movement tremor" lay between 3 and 5 Hz. The average velocity maxima during dentate cooling did not change. The findings indicate that different types of movements exhibit different disturbances of the movement pattern during the period of functional elimination of the same anatomical structure. The results indicate that the dentate nucleus and cerebellar hemispheres take part in preprogramming movement duration (Kornhuber) for rapid ballistic movements. In slower target movements, the dentate nucleus may be involved in sectional preprogramming of step movements.

Animals↗

Focused medical surveillance: a search for subclinical movement disorders in a cohort of U.S. workers exposed to low levels of manganese dust.

Seventy-five workers with recent and/or historical exposure to manganese (Mn) at a metal producing plant in northern Mississippi were closely matched with 75 control workers who had no known history of occupational exposure to Mn. Both plants are OSHA STAR work sites and share common medical, safety, and industrial hygiene services. Airborne Mn levels were assessed for each of twelve job categories at the Mn facility by collecting 63 side-by-side full-shift personal samples of both total and respirable Mn dust. Exposures of workers currently working with Mn averaged 0.066 mg/3 respirable and 0.18 mg/3 total Mn. An assessment of major equipment and work practice changes over the past several years and estimates of the resultant relative impacts on exposure was made. Based on this information and individual employment information, each worker's cumulative exposure to respirable and total Mn was estimated for the preceding 30 days, preceding year, and for the worker's entire employment history. Both Mn and control workers were administered multiple neuropsychological tests including tests of hand-eye coordination, hand steadiness, complex reaction time, and rapidity of finger tapping. A questionnaire was used to evaluate a worker's neuropsychological status. Performance decreased significantly with increasing age in tests of hand-eye coordination, complex reaction time and finger tapping speed. No effect of Mn exposure was found on the results of the questionnaire or any neuropsychological test.

Age Factors↗

Increased risk of lead fracture and migration in dystonia compared with other movement disorders following deep brain stimulation.

Deep brain stimulation (DBS) therapy is a continually expanding field in the functional neurosurgical treatment of movement disorders. However, the occurrence of adverse events related to implanted hardware cannot be overlooked. We report on a specific feature noted in our experience of DBS-related complications. From 1998 until present we have found an overall rate of 5.3% of DBS electrode lead dysfunction (out of 133 patients) in our series (slipped leads 2.3%, lead fracture 3.8%). Interestingly, all of these failures occurred in dystonia patients (18.4% of all dystonia patients and 9.2% of all electrodes). We postulate on mechanisms that may explain why these complications predominate in this group of patients.

Adolescent↗

Physiologic studies in the human brain in movement disorders.

Physiologic studies are useful in identifying brain targets during functional neurosurgical procedures for the treatment of Parkinson's disease and other movement disorders. These studies also open a window into the function and dysfunction in the basal ganglia. Recording of the activity of single neurons in the motor thalamus, the globus pallidus or the subthalamic nucleus with microelectrodes is providing important insights into the pathophysiology of parkinsonism and the mechanism of action of medical therapy and surgical interventions.

Animals↗

Physiotherapy for young people with movement disorders: factors influencing commencement and duration.

A questionnaire sent to the parents of 105 patients aged between nine and 20 years with movement disorders was answered by 81 parents. 51 per cent of the patients were undergoing physiotherapy, and these had been having physiotherapy for almost all of their lives. Patients with lower mobility scores and those with both parents participating tended to continue with physiotherapy. Mobility scores were less of a determinant for girls than for boys for continuing or discontinuing physiotherapy. The diagnosis of cerebral palsy combined with an early start to physiotherapy also gave a higher continuation rate.

Adolescent↗

Positron emission tomography studies in movement disorders.

Positron emission tomography (PET) scanning provides a sensitive means of detecting and characterizing regional changes in brain metabolism and receptor binding in movement disorders. PET allows the quantitative examination of regional cerebral blood flow, regional glucose and oxygen metabolism, and brain pharmacology. In this article, the particular use of PET to determine the effects of therapeutic stereotactic surgery, including transplantation, on brain function in Parkinson's disease and in tremor patients is highlighted.

Humans↗

Intrafamilial heterogeneity of movement disorders: report of three cases in one family.

We report three members of a single family with an apparently autosomal dominant, nonparoxysmal, hyperkinetic movement disorder with onset in adolescence. The proband, a 56-year-old woman, manifested dystonia, tremor and myoclonus; one of her daughters exhibited myoclonus with tremor, and the other demonstrated myoclonus with chorea later accompanied by tremor and dystonia. The slowly progressive but not debilitating symptoms were restricted to the head, arms and hands and were only moderately affected by alcohol. Laboratory investigations failed to identify any abnormality, and linkage analysis excluded the region containing the DYT1 locus, indicating that the gene responsible for idiopathic torsion dystonia was not implicated in this family. While this disorder shares manifestations with myoclonic dystonia, essential myoclonus and benign chorea, the marked intrafamilial heterogeneity and the sex-limited phenotype expressed only in females of two generations appear to be unique.

Adolescent↗

Movement disorder in Down's syndrome: a possible marker of the severity of mental handicap.

This study examined the nature and prevalence of abnormal movements in adults with Down's syndrome and also the clinical correlates of orofacial dyskinesia and the relationship between dyskinesia and the level of functional and intellectual disability. Movement disorder, language age, and disability were assessed in an epidemiologically based sample of 145 individuals with Down's syndrome. Abnormal involuntary movements were common, with > 90% exhibiting dyskinesia, predominantly orofacial. Stereotypes were present in one-third of the sample. There was an association between the severity of dyskinesia and both current language age and functioning in terms of self-care and practical and academic skills, which suggested that dyskinesia may be a marker of the severity of mental handicap. The presence of dyskinesia was unrelated to neuroleptic exposure. Dyskinesia and stereotypies are very common in individuals with Down's syndrome and may represent an inherent manifestation of the disorder. The relationship between mental age and dyskinesia in Down's syndrome warrants further research.

Activities of Daily Living↗