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

We have reported the case of a 58-year-old woman with cerebral palsy who experienced a persistent, generalized syndrome of dystonia and rigidity (tardive dystonia-parkinsonism) while being treated for vomiting with metoclopramide in combination with prochlorperazine. This syndrome was more severe than is typically seen in drug-induced extrapyramidal syndromes and may have contributed to her death. The extreme severity of this disorder was probably related to the use of a combination of dopamine antagonists in a patient who had premorbid cerebral dysfunction. Although dopamine antagonists should always be used with caution in individuals with cerebral dysfunction, this particular combination of antiemetics should probably be avoided in such patients.
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PMID:Persistent extrapyramidal syndrome with dystonia and rigidity caused by combined metoclopramide and prochlorperazine therapy. 203 85

The status of the nonspecific brain systems was analyzed in 72 miners. Of these, 41, were in the premorbid stage and 31 were with the initial manifestations of vibration disease that occurred as a result of exposure to local vibration. The miners demonstrated dysfunction of the limbic-reticular complex in the form of concomitant vegetative, psychoemotional and nonspecific activation shifts. The syndrome of vegetative dystonia characteristic of the early (preclinical and manifest) nonspecific manifestations of vibration disease was a clinical reflection of cerebral dysfunction.
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PMID:[The cerebral mechanisms of the autonomic disorders in vibration disease]. 216 23

Fifteen drug-free patients with early to midstage Huntington's disease were evaluated with quantitative neurological examinations, scales for functional capacity, computed tomographic (CT) scans, and positron emission tomographic (PET) scans of 18F-2-fluoro-2-deoxyglucose (18F-FDG) uptake. All patients had abnormal indices of caudate metabolism on PET scanning, whereas in patients with early disease indices of putamen metabolism and CT measures of caudate atrophy were normal. Indices of caudate metabolism correlated highly with the patients' overall functional capacity (r = 0.906; p less than 0.001) and bradykinesia/rigidity (r = -0.692; p less than 0.01). Indices of putamen metabolism correlated highly with motor functions: chorea (r = -0.841; p less than 0.01), oculomotor abnormalities (r = -0.849; p less than 0.01), and fine motor coordination (r = -0.866; p less than 0.01). Indices of thalamic metabolism correlated positively with dystonia (r = 0.559; p less than 0.05). The data suggest that PET scanning with 18F-FDG is a sensitive measure of brain dysfunction in Huntington's disease and that basal ganglia metabolism is highly correlated with the overall functional capacity of individual patients and with the degree of their motor abnormalities.
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PMID:PET scan investigations of Huntington's disease: cerebral metabolic correlates of neurological features and functional decline. 294 10

Tardive dyskinesia (TD) has been associated with cognitive deficits, especially in older psychiatric patients on neuroleptic medication. This study investigated the relationship between presence of TD, organic brain dysfunction (OBD), and cognitive deficits in young psychiatric outpatients maintained on minimal doses of oral neuroleptics, with anticholinergics prescribed only on as-needed basis. Sixty-four patients, aged 20-39 years, were evaluated for the presence of abnormal movements, localizing and nonlocalizing physical signs, and deficits in memory, ability to shift, and sustained attention. Sixteen patients showed definite signs of TD. Significant associations were found between TD and OBD, and between cognitive deficits and OBD, but not between TD and cognitive deficits. Significant regression predictors of TD were the interaction between OBD and previous dystonia, as well as duration of neuroleptic treatment. These findings suggest that some potential risk factors for TD already identified in the literature also apply to younger patients with relatively shorter exposure to neuroleptics. However, the results indicate that the relationship between movement disorders and cognitive deficits may be more apparent in older patients.
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PMID:Organic brain dysfunction and cognitive deficits in young schizophrenic patients with tardive dyskinesia. 810 25

Early-onset idiopathic torsion dystonia (ITD) is an autosomal dominant hyperkinetic movement disorder with incomplete penetrance, associated with a 3 base-pair deletion in the DYT1 gene on chromosome 9q34. To determine the metabolic substrates of brain dysfunction in DYT1 dystonia, we scanned 7 nonmanifesting and 10 affected DYT1 carriers and 14 normal volunteers with [18F]fluorodeoxyglucose and positron emission tomography. We found that DYT1 dystonia is mediated by the expression of two independent regional metabolic covariance patterns. The first pattern, identified in an analysis of nonmanifesting gene carriers was designated movement free (MF). This abnormal pattern was characterized by increased metabolic activity in the lentiform nuclei, cerebellum, and supplementary motor areas. The MF pattern was present in DYT1 carriers with and without clinical manifestations and persisted in DYT1 dystonia patients in whom involuntary movements were suppressed by sleep. The second pattern, identified in an analysis of affected gene carriers with sustained contractions at rest, was designated movement related (MR). This pattern was characterized by increased metabolic activity in the midbrain, cerebellum, and thalamus. The expression of the MR pattern was increased in waking DYT1 patients with sustained dystonia, compared with DYT1 carriers who were unaffected or who had dystonia only on action, as well as normal controls. MR subject scores declined significantly with sleep in affected DYT1 patients but not in normal controls. These findings indicate the penetrance of the DYT1 gene is considerably greater than previously assumed. ITD is mediated through the interaction of functional brain networks relating separately to gene status and to abnormal movement.
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PMID:Functional brain networks in DYT1 dystonia. 974 93

Functional neuroimaging using positron emission tomography (PET), and more recently functional MRI (fMRI) and magnetoencephalography (MEG), is a valuable tool to study functional anomalies in dystonia. Activation studies have contributed to a better understanding of cerebral dysfunction in dystonia showing two main types of abnormalities: changes in activation levels during performance of sensory or motor tasks and disorganization of the selectivity of neuronal representations. In primary dystonia, most PET and fMRI studies have shown overactivity in premotor and prefrontal areas and underactivation of primary sensorimotor areas. In secondary dystonia, premotor and prefrontal areas are similarly overactive as well as primary sensorimotor areas. Altered selectivity of neuronal representations has been described more recently along cortico-subcortical circuits. The loss of neuronal selectivity may contribute to the loss of selectivity of muscular contractions observed in dystonia. Spectroscopic MRI may also be used to measure GABA levels, which are decreased in the cortex and basal ganglia in these patients.
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PMID:[Dystonia: contributions of functional imaging and magnetoencephalography]. 1461 75

Neurophysiologic abnormalities are frequently seen in organic acidemias, but knowledge of the specific changes in the different types of organic acidemias is lacking. We studied electroencephalogram (EEG), visual evoked potential (VEP) and brain-stem auditory evoked response (BAER) in seven children with glutaric aciduria type I (GA1) to assess the neurophysiologic features in this rare inborn error of metabolism. Age at the time of the diagnosis ranged between 3 months and 36 months. Age at the time of neurophysiologic evaluation ranged between 11 months and 36 months. At the time of neurophysiologic evaluation, severe global developmental delay was seen in four patients, dystonia in four patients, motor delay in two patients, and axial hypotonia in two patients; macrocephaly, spasticity, moderate mental retardation and borderline intelligence were each seen in one patient. One patient had autistic features characterized by lack of language and social skills, poor eye contact and stereotypical behavior. Three of seven patients showed abnormal EEG findings. Two patients showed asymmetry with intermittent occipital delta slowing in one hemisphere. This finding probably indicates underlying cerebral dysfunction, and is not a specific feature. However, it suggests that these patients may develop abnormal EEG features during the course of the disease, and thus a baseline EEG may be useful for comparison over time. One patient showed high amplitude bursts of beta in the occipital regions with left predominance while on clonazepam and baclofen. We believe this finding was due to medication effect, and that what we observed was an exaggarated response to benzodiazepine. The clinical significance of this finding is unclear. VEP and BAER were available in four patients, and we found abnormalities in three of them. Neurophysiologic evaluation may be helpful in patients with GA1 as in other types of organic acidemias to help detect subtle changes that are not reflected by neurological examination or neuroimaging studies, and it may guide future treatment plans. Detailed neurophysiologic analysis in a large series of GA1 may yield further information regarding the extent of cerebral dysfunction.
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PMID:Neurophysiologic features in glutaric aciduria type I. 1605 56

We describe a consanguineous Iraqi family in which affected siblings had mild mental retardation and congenital ataxia characterized by quadrupedal gait. Genome-wide linkage analysis identified a 5.8 Mb interval on chromosome 8q with shared homozygosity among the affected persons. Sequencing of genes contained in the interval revealed a homozygous mutation, S100P, in carbonic anhydrase related protein 8 (CA8), which is highly expressed in cerebellar Purkinje cells and influences inositol triphosphate (ITP) binding to its receptor ITPR1 on the endoplasmatic reticulum and thereby modulates calcium signaling. We demonstrate that the mutation S100P is associated with proteasome-mediated degradation, and thus presumably represents a null mutation comparable to the Ca8 mutation underlying the previously described waddles mouse, which exhibits ataxia and appendicular dystonia. CA8 thus represents the third locus that has been associated with quadrupedal gait in humans, in addition to the VLDLR locus and a locus at chromosome 17p. Our findings underline the importance of ITP-mediated signaling in cerebellar function and provide suggestive evidence that congenital ataxia paired with cerebral dysfunction may, together with unknown contextual factors during development, predispose to quadrupedal gait in humans.
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PMID:CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. 1946 74

Emerging pathophysiological findings suggest that primary dystonia originates partly though not exclusively from brain dysfunction involving the basal ganglia and cortico-striatal-thalamo-cortical motor circuits. Studies applying various neurophysiological tests, including spinal and brainstem reflexes, transcranial magnetic stimulation, somatosensory evoked potentials and magnetoencephalography, have documented numerous pathophysiological abnormalities in the various forms of primary dystonia. Owing to differences in the methodology used and in the clinical features of the patients enrolled, these studies have often provided controversial results and failed to determine whether neurophysiological findings correlate with patients' clinical features. In this paper, seeking up-to-date information for use in planning future studies we review the role of neurophysiological methods in the clinical diagnosis of primary dystonia. To improve the current neurophysiological approach to the clinical diagnosis of primary dystonia, future studies should aim to use standardized study designs and methods, enrol homogeneous and clinically well-defined populations and investigate the diagnostic sensitivity and specificity of the available neurophysiological tests.
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PMID:Does neurophysiological testing provide the information we need to improve the clinical management of primary dystonia? 1961 96

Motor disturbances are very common in paediatric neurology. Often families can be reassured that these are just variants of normal development. However, abnormal movements can also be the hallmark of severe brain dysfunction of different and complex origins. This review concentrates on motor disturbances as frequent and important symptoms of inborn errors of metabolism. A structured diagnostic approach is developed taking into account age-dependent physiological developments and pathophysiological responses of gross and fine motor functions. A series of investigations are presented with the primary aim of early diagnosis of treatable conditions. The correct recognition and differentiation of movement disorders (ataxia, rigid akinetic syndrome (Fparkinsonism_), dystonia, athetosis, tremor,and others), spasticity, and neuromuscular disorders, requires profound neurological expertise. A high level of suspicion and close interaction between paediatric neurologists and specialists in inborn errors of metabolism are indispensable to effectively and timely identify patients in whom motor disturbances are the presenting and/or main symptom of an inborn error.
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PMID:Inborn errors of metabolism and motor disturbances in children. 1973 Oct 74


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