Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neurotransmitters of the basal ganglia are of three types: I, amino acids; II, amines; and III, peptides. The amino acids generally act ionotropically while the amines and peptides generally act metabotropically. There are many examples of neurotransmitter coexistence in basal ganglia neurons. Diseases of the basal ganglia are characterized by selective neuronal degeneration. Lesions of the caudate, putamen, subthalamus and substantia nigra pars compacta occur, respectively, in chorea, dystonia, hemiballismus and parkinsonism. The differing signs and symptoms of these diseases constitute strong evidence of the functions of these various nuclei. Basal ganglia diseases can be of genetic origin, as in Huntington's chorea and Wilson's disease, of infectious origin as in Sydenham's chorea and postencephalitic parkinsonism, or of toxic origin as in MPTP poisoning. Regardless of the etiology, the pathogenesis is often regionally concentrated for reasons that are poorly understood. From studies on Parkinson and Huntington disease brains, evidence is presented that a common feature may be the expression of HLA-DR antigen on reactive microglia in the region where pathological neuronal dropout is occurring.
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PMID:Anatomy and pathology of the basal ganglia. 289 Apr 25

Many basal-ganglia disorders are complicated by psychological disturbances and most are aggravated by emotional tension. These relationships are considered in the context of parkinsonism, Sydenham's chorea, Huntington's disease, Wilson's disease and a number of generalized and localized varieties of dystonia.
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PMID:Psychiatric complications of some basal-ganglia disorders. 306 74

Involuntary movements originate from different parts of the nervous system. The character of movements depends upon the site of the lesion and the type of pathological change. The presence of more than one type of involuntary movement in a patient can cause confusion and difficulty in the proper classification of movement disorders, which then leads to problems in the differential diagnosis and appropriate treatment. This work was planned to estimate the prevalence and to study the aetiological factors of chorea, dystonia, athetosis and hemiballismus in Assiut, a representative community of Upper Egypt. This study was carried out on 7,000 families (42,000 subjects) representing different types of communities (2,000 families from urban, 2,000 families from suburban and 3,000 families from rural communities). All members of these samples were personally interviewed at home. Full clinical assessment and special investigations required for the diagnosis of different types of chorea, dystonia and athetosis were carried out in Assiut University Hospital. The prevalence rate for rheumatic chorea was 62/100,000 population and it was significantly higher (p < 0.01) among rural than urban and suburban populations, whereas Huntington's chorea had a prevalence rate of 21/100,000 with no significant difference between different areas studied (urban, suburban and rural). The other two common types of chorea were reported with prevalence rates of 12/100,000 for the encephalitic type and 17/100,000 for the atherosclerotic type. No single case of generalized dystonia was recorded and all cases were of the focal type of dystonia with a prevalence rate of 26/100,000 population. No significant differences were recorded between the different areas studied (urban, suburban and rural).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Prevalence of chorea, dystonia and athetosis in Assiut, Egypt: a clinical and epidemiological study. 796 3

Glutaracidemia/glutaraciduria type I is an acute or subacute neuropathic disorder of infancy or early childhood. The following symptoms characterize the clinical course: macrocephalus present at birth, cerebral atrophy revealed by CT or MRI scans, most striking in the frontal and temporal lobes, choreoathetosis and dystonia as neurological handicaps. The deficiency of glutaryl-CoA-dehydrogenase leads to glutaracidemia and glutaraciduria. It is reported on a three year old girl. The glutaraciduria is an important differential diagnosis to chorea minor.
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PMID:[Glutaric acidemia/glutaric aciduria I as differential chorea minor diagnosis]. 848 80

In normal subjects the execution of single rapid one-joint movements is characterized by an electromyographic (EMG) pattern composed of three discrete bursts of activity; two bursts (first and second agonist bursts, or AG1 and AG2) are present in the agonist muscle separated by an almost complete period of electrical silence. During this pause, another burst (antagonist burst, or ANT) occurs in the antagonist muscle. If a rapid movement is executed during tonic activation of the agonist muscle, tonic activity is inhibited just prior to AG1 onset (agonist inhibition). Similarly, if the movement is performed during tonic activation of the antagonist muscle, such activity is also inhibited prior to AG1 onset (antagonist inhibition). Antagonist inhibition also starts prior to AG1 onset and lasts until ANT onset. A general descriptor of the kinematic features related to the EMG pattern described above is a symmetrical and unimodal velocity profile that is bell-shaped and shows an acceleration time roughly equal to the deceleration time. This holds true for movements performed under low accuracy constraints; as accuracy demands become stricter and stricter, the peak velocity decreases but, as long as the movement is made with one continuous trajectory, the velocity profile remains roughly symmetrical. In general terms, the function of AG1 is to provide the impulsive force to start the movement; the function of ANT is to halt the movement at the desired end-point; and the function of AG2 is to dampen out the oscillations which might occur at the end of the movement. The timing and size of the bursts vary according to the speed and amplitude of the movement. The origin of the EMG pattern is a central programme, but afferent inputs can modulate the voluntary activity. In this paper, we also review the EMG and kinematic abnormalities that are present during the execution of single-joint, rapid arm movements in patients with Parkinson's disease, Huntington's disease, Sydenham's chorea, dystonia, athetosis, cerebellar deficits, upper motor neuron syndrome, essential tremor and large-fibre sensory neuropathy. The data from these studies lead us to the following conclusions: (i) the basal ganglia have a role in scaling the size of AG1, reinforcing the voluntary command and inhibiting inappropriate EMG activity; (ii) the cerebellum has a role in timing the voluntary bursts and probably in implementing muscle force phasically; (iii) the corticospinal tract has a role in determining spatial and temporal recruitment of motor units; (iv) proprioceptive feedback is not necessary to produce the triphasic pattern but it contributes to the accuracy of both the trajectory and the end-point of rapid movements.
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PMID:Single-joint rapid arm movements in normal subjects and in patients with motor disorders. 880 Sep 55

Sydenham's chorea (SC) occurs weeks or months after Group A streptococcal infection, and is characterized by involuntary, purposeless movements of the limbs, in addition to behavioural alteration. There is a body of evidence which suggests that SC is an immune-mediated brain disorder with regional localization to the basal ganglia. Recent reports have suggested that the spectrum of post-streptococcal CNS disease is broader than chorea alone, and includes other hyperkinetic movement disorders (tics, dystonia and myoclonus). In addition, there are high rates of behavioural sequelae, particularly emotional disorders such as obsessive-compulsive disorder, anxiety and depression. These findings have lead to the hypothesis that similar immune-mediated basal ganglia processes may be operating in common neuropsychiatric disease such as tic disorders, Tourette syndrome and obsessive-compulsive disorder. This review analyses the historical aspects of post-streptococcal CNS disease, and the recent immunological studies which have addressed the hypothesis that common neuropsychiatric disorders may be secondary to basal ganglia autoimmunity.
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PMID:Autoimmunity and the basal ganglia: new insights into old diseases. 1261 82

Anti-basal ganglia antibodies (ABGA) have been associated with movement disorders (usually tics and chorea) and psychiatric disturbance in children. This report describes five adult and adolescent patients (one male, four females; mean age of onset, 16 years (range, 13-35)) who presented subacutely with a clinical syndrome dominated by dystonia and had ABGA binding to antigens of similar molecular weights to those seen in Sydenham's chorea. Three patients had a clear history of respiratory infection before the onset of their symptoms. Three patients received immunosuppressive treatment, with three showing a notable reduction in symptoms. It is hypothesised that dystonia in adults or adolescents may be part of the clinical spectrum of the post-infectious syndrome associated with ABGA.
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PMID:A dystonic syndrome associated with anti-basal ganglia antibodies. 1514 15

We report an adult patient presenting with choreiform movements 4 days after a large intravenous dose of cocaine. These movements were transitory and they normalized a week after admission. We believe this to be the first video case of acute chorea secondary to cocaine--a phenomenon popularly known as "crack dancing. " Cocaine abuse is associated with a wide range of movement disorders, including dystonia and exacerbation of Tourette's syndrome, multifocal tics, opsoclonus-myoclonus, choreiform movements, and stereotyped behavior known as "punding." Transient choreiform movements with a typical duration of 2 to 6 days are recognized by cocaine abusers themselves as crack dancing, but are infrequently reported. We present a video report of a patient with cocaine dependency and choreiform movements that normalized within a week of admission.
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PMID:Crack dancing in the United Kingdom: apropos a video case presentation. 1741 1

Movement disorders have been known to be associated with a variety of autoimmune diseases, including Sydenham's chorea, pediatric autoimmune neuropsychiatric disorders associated with streptococcus, systemic lupus erythematosus, antiphospholipid syndrome, gluten sensitivity, paraneoplastic and autoimmune encephalopathies. Tremors, dystonia, chorea, ballism, myoclonus, parkinsonism, and ataxia may be the initial and even the only presentation of these autoimmune diseases. Although antibodies directed against various cellular components of the central nervous system have been implicated, the pathogenic mechanisms of these autoimmune movement disorders have not yet been fully elucidated. Clinical recognition of these autoimmune movement disorders is critically important as many improve with immunotherapy or dietary modifications, particularly when diagnosed early. We discuss here the clinical features, pathogenic mechanisms, and treatments of movement disorders associated with autoimmune diseases, based on our own experience and on a systematic review of the literature.
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PMID:Movement disorders in autoimmune diseases. 2255 4

Recent reports of autoantibodies that bind to neuronal surface receptors or synaptic proteins have defined treatable forms of autoimmune encephalitis. Despite these developments, many cases of encephalitis remain unexplained. We have previously described a basal ganglia encephalitis with dominant movement and psychiatric disease, and proposed an autoimmune aetiology. Given the role of dopamine and dopamine receptors in the control of movement and behaviour, we hypothesized that patients with basal ganglia encephalitis and other putative autoimmune basal ganglia disorders harboured serum autoantibodies against important dopamine surface proteins. Basal ganglia encephalitis sera immunolabelled live surface cultured neurons that have high expression of dopamine surface proteins. To detect autoantibodies, we performed flow cytometry cell-based assays using human embryonic kidney cells to express surface antigens. Twelve of 17 children (aged 0.4-15 years, nine males) with basal ganglia encephalitis had elevated immunoglobulin G to extracellular dopamine-2 receptor, compared with 0/67 controls. Immunofluorescence on wild-type mouse brain showed that basal ganglia encephalitis sera immunolabelled microtubule-associated protein 2-positive neurons in striatum and also in cultured striatal neurons, whereas the immunolabelling was significantly decreased in dopamine-2 receptor knock-out brains. Immunocytochemistry confirmed that immunoreactivity localized to the surface of dopamine-2 receptor-transfected cells. Immunoabsorption of basal ganglia encephalitis sera on dopamine-2 receptor-transfected human embryonic kidney cells decreased immunolabelling of dopamine-2 receptor-transfected human embryonic kidney cells, neurons and wild-type mouse brain. Using a similar flow cytometry cell-based assay, we found no elevated immunoglobulin G binding to dopamine 1, 3 or 5 receptor, dopamine transporter or N-methyl-d-aspartate receptor. The 12 dopamine-2 receptor antibody-positive patients with encephalitis had movement disorders characterized by parkinsonism, dystonia and chorea. In addition, the patients had psychiatric disturbance with emotional lability, attention deficit and psychosis. Brain magnetic resonance imaging showed lesions localized to the basal ganglia in 50% of the patients. Elevated dopamine-2 receptor immunoglobulin G was also found in 10/30 patients with Sydenham's chorea, 0/22 patients with paediatric autoimmune neuropsychiatric disorders associated with streptococcal infection and 4/44 patients with Tourette's syndrome. No dopamine-1 receptor immunoglobulin G was detected in any disease or control groups. We conclude that assessment of dopamine-2 receptor antibodies can help define autoimmune movement and psychiatric disorders.
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PMID:Antibodies to surface dopamine-2 receptor in autoimmune movement and psychiatric disorders. 2380 59


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