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)

Infectious disease is a rare cause of parkinsonism. We report a 7-year-old boy who developed flu-like symptoms followed by parkinsonian features including hypophonia, hypomimia, bradykinesia, and dystonia. A T2-weighted brain magnetic resonance imaging showed high signal intensities in both basal ganglia. The results of serial serologic tests of Mycoplasma pneumonia antibody suggest that this movement disorder was associated with Mycoplasma pneumonia infection. The patient's symptoms gradually resolved, and the basal ganglionic lesions disappeared on follow-up magnetic resonance imaging.
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PMID:Reversible parkinsonism and dystonia following probable mycoplasma pneumoniae infection. 756 36

The coexistence of tremor and dystonia is usually seen but there is not a satisfactory explanation for it. Some consider that essential tremor (ET) and idiopathic dystonia (ID) may be genetically linked. To clarify this relationship we evaluated the frequency of postural hand tremor in ID and symptomatic dystonia (SD) patients. We studied the records of patients with dystonia seen in our Movement Disorders Unit. ID was considered when there was no other neurological abnormality in the examination aside from dystonia, normal laboratorial tests and neuroimaging related to dystonia, and a negative past history for any known cause for it, except for genetic predisposition. We analyzed the clinical characteristics of dystonia and the occurrence of postural tremor. We collected 185 patients, being 120 with ID and 65 with SD. Tremor was seen in 27 (22.5%) of ID and 14 (21.5%) of SD. Tremor was present in either focal, segmental or generalized dystonia in both ID and SD. Family history for ET was absent in all patients. The similar frequency of tremor in ID and SD patients suggests that the pathophysiologic derangement resulting in dystonia can favor the development of tremor.
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PMID:[Postural tremor and dystonia. Clinical aspects and physiopathological considerations]. 761 37

Previous studies suggest that Leber's hereditary optic neuropathy (LHON) may be a systemic disorder with manifestations in organs other than the optic nerves. To evaluate nervous system involvement 38 men and eight women with LHON were re-examined. The patients were divided into three groups according to mtDNA analysis--namely, patients with the 11778 or with the 3460 mutation and patients without these primary mutations. Fifty nine per cent of patients had neurological abnormalities but there was no significant difference between the three groups. Movement disorders were the most common finding; nine patients had constant postural tremor, one chronic motor tic disorder, and one parkinsonism with dystonia. Four patients had peripheral neuropathy with no other evident cause. Two patients had a multiple sclerosis-like syndrome; in both patients MRI showed changes in the periventricular white matter. Thoracic kyphosis occurred in seven patients, five of whom had the 3460 mutation. In one patient the 3460 mutation was associated with involvement of the brain stem. It is suggested that various movement disorders, multiple sclerosis-like illness, and deformities of the vertebral column may associate pathogenetically with LHON.
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PMID:Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. 762 30

In a population of 200 consecutive inpatients with a history of at least 3 months' total cumulative neuroleptic exposure, the prevalence of tardive dystonia (TDt) was 4%, higher than previously reported. The prevalence of tardive dyskinesia (TDk) was 22%. Patients with TDt did not differ in demographic or clinical variables from nondyskinetic patients. In comparison with patients with TDk, patients with TDt were significantly younger, had a more severe movement disorder, and had received neuroleptics for the first time fewer years before. Patients with TDk were significantly older than patients without tardive disorders, both when they were examined and when they had started their first neuroleptic treatment. Furthermore, they had started their first neuroleptic treatment more years before. These results support the distinction between TDt and TDk, and suggest that the previously reported prevalence of TDt might have been underestimated.
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PMID:Tardive dystonia. Prevalence, risk factors, and comparison with tardive dyskinesia in a population of 200 acute psychiatric inpatients. 766 21

Patients with AIDS dementia complex (ADC) appear to have an increased likelihood of developing acute onset parkinsonism and dystonia when treated with dopamine antagonists. It has been hypothesized, based on clinical evidence, that hypersensitivity to these drugs in ADC is probably related to direct invasion of the basal ganglia by the HIV virus and a secondary alteration in dopaminergic mechanisms. We report the first pathological description of a patient with ADC who developed acute onset, generalized rigidity and dystonia after a brief trial of low dose neuroleptic therapy administered for psychotic symptoms. An unusual clinical feature of this case was the persistence of his movement disorder. Pathological examination revealed a generalized encephalitic process with substantial neuronal loss observed primarily in the medial and lateral globus pallidus. Correlation with a current model of basal ganglia pathophysiology and other disorders with pallidal lesions is discussed. Clinical and pathological features of this case confirm the previous contention and indicate that dopamine antagonists should be utilized with extreme caution in patients with ADC.
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PMID:Persistent neuroleptic-induced rigidity and dystonia in AIDS dementia complex: a clinico-pathological case report. 769 86

Botulinum A toxin injection is the most recent and effective treatment of various movement disorders especially focal dystonia. Spasmodic torticollis is one focal dystonia which responds poorly to both medication and surgery. Botulinum A toxin injection has been adopted as a treatment procedure at the Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand since 1989 (before the American Food and Drug Administration approval) as a research protocal for Thai patients. This report is the first ever study of this treatment for Thai patients with spasmodic torticollis. Fifty six spasmodic torticollis patients who had been treated with botulinum A toxin injection at the Movement Disorder Clinic, Siriraj Hospital were analysed. Thirty six patients were male and the male to female ratio was 1.8:1. Most of the patients (76.79 per cent) were aged between 20-49 years and half of them were from Bangkok. Twelve patients (21.43 per cent) were classified as simple torticollis, 35 patients (62.5 per cent) were combined torticollis, 7 patients (12.5 per cent) were retrocollis, and 2 patients (3.57 per cent) were lateral collis. Three patients had generalised dystonia and 2 patients had segmental dystonia. Duration of suffering in each patient ranged from 1 month to 25 years with the mean duration of 3.70 (S.D. 5.09) years. Only four patients (7.14 per cent) refused botulinum A toxin injection due to their mild symptoms. The remaining 52 patients were given botulinum A toxin injection of 30-120 international units into the most overactive group of muscles which were responsible for abnormal neck posture (mainly sternocleidomastoid and splenius capitis). Eight patients (15.38 per cent) were lost to follow-up.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Botulinum A toxin treatment in spasmodic torticollis: report of 56 patients. 770 65

Dystonia is a relatively common syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. The most frequent type of dystonia is idiopathic generalized dystonia, whose pathophysiology is largely unknown. In this respect, mutant animal strains with inborn dystonia may be helpful to elucidate the pathophysiological defects involved in idiopathic dystonia. The genetically dystonic (dtsz) hamster is an animal model of paroxysmal dystonia that displays attacks of generalized dystonia either spontaneously or in response to mild environmental stimuli. In the present study, a quantitative autoradiographic analysis of ligand binding to different sites of the GABAA/benzodiazepine receptor-chloride ionophore complex was carried out in 123 brain areas from genetically dystonic mutant hamsters and age-matched control hamsters. Animals were killed 2 weeks after their last dystonic attack. Analysis of the GABA-binding site of the receptor complex, using the ligand [3H]muscimol, and the benzodiazepine site labelled with [3H]flunitrazepam revealed no significant alterations in the binding of either ligand in any of the brain regions examined. In contrast, widespread changes were observed in binding densities of [35S]t-butylbicyclophosphorothionate ([35S]t-butylbicyclophosphorothionate), which labels the picrotoxinin site of the GABAA receptor-chloride ionophore complex. Significantly increased [35S]t-butylbicyclophosphorothionate binding was found in several parts of the thalamus, cortex, and hippocampus as well as in the red nucleus, the subthalamic nucleus, and the granular layer of the cerebellum. Since high-affinity [35S]TBPS binding is thought to represent the closed conformation of the GABA-gated chloride ionophore, increased TBPS binding would indicate an impaired GABAergic function. The study is consistent with the concept that dystonia is caused by impaired connections between the basal ganglia, the thalamus, and frontal association areas. The data on increased [35S]TBPS binding are the first evidence implicating alterations in the GABA-gated chloride ion channel function in a movement disorder, i.e. idiopathic generalized dystonia.
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PMID:Alterations in the brain GABAA/benzodiazepine receptor-chloride ionophore complex in a genetic model of paroxysmal dystonia: a quantitative autoradiographic analysis. 770 8

Dentatorubropallidoluysian atrophy is a neurodegenerative disorder with characteristic pathology, chiefly described in reports from Japan, and is associated with an unstable CAG trinucleotide repeat in a gene on chromosome 12. We describe four European families, three British and one Maltese, with this mutation. All exhibited autosomal dominant inheritance, and there was evidence for anticipation associated with an increase of the expansion with paternal transmission in two families. Affected chromosomes from patients with dentatorubropallidoluysian atrophy had CAG expansions of 58 to 74 repeats, compared to 7 to 26 in control chromosomes, and the size of repeat was significantly inversely correlated with age of onset. The clinical features were diverse, even within individual families, and comprised a combination of a movement disorder (chorea, myoclonus, dystonia, or parkinsonism), cerebellar ataxia, epilepsy, psychosis, and dementia. A clinical diagnosis of Huntington's disease had been made in affected individuals from all families. Neuropathological examination of 2 patients showed no specific abnormality in one and degenerative changes predominantly affecting the spinal cord in the other. Investigation of 55 patients who might represent sporadic examples of dentatorubropallidoluysian atrophy did not detect any expanded alleles. Dentatorubropallidoluysian atrophy is likely to be more common than previously recognized in non-Japanese populations, and should be considered in any patient with a dominantly inherited neurodegenerative disorder with the above-mentioned clinical features.
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PMID:A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families. 771 81

While dyskinetic movements have been reported in primates with unilateral excitotoxic lesions following stimulation by dopaminergic agonists, the presence and intensity of the dyskinetic syndromes have varied extensively with size and location of lesion. With the intent of producing a more reliable behavioral model of Huntington disease, anatomically-defined lesions of limited size were produced by magnetic resonance imaging-guided stereotaxic injection of quinolinic acid in specific regions within the caudate and putamen of rhesus monkeys. The location and extent of the lesions were verified by magnetic resonance imaging as well as quantitative positron emission tomography imaging with the dopamine D1 specific receptor ligand SCH 39166 as a marker for striatal output neurons. The quality, frequency and duration of dyskinetic movements were assessed and quantified before and after administration of 0.5 mg/kg apomorphine in multiple test sessions over several months. Selective unilateral lesions in the posterior putamen, but not in the anterior putamen or the head of the caudate, produced marked dystonia and dyskinesia after apomorphine administration. While combined unilateral lesions of the caudate and posterior putamen produced dyskinesia similar to selective posterior putaminal lesions, combined unilateral lesions of the anterior and posterior putamen did not elicit dyskenesia. On the basis of these results, one monkey received a bilateral selective lesion in the posterior putamen. This animal remained healthy and exhibited marked spontaneous Huntington-like chorea spontaneously in the first 48 h after lesioning and persistent apomorphine-induced dyskinesia thereafter. We conclude that bilateral selective excitotoxic lesions of the posterior putamen provide an improved model of the movement disorder of Huntington disease.
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PMID:Selective putaminal excitotoxic lesions in non-human primates model the movement disorder of Huntington disease. 775 72

A 64-year-old man presented with a three day history of progressive Broca's aphasia, followed within 3 weeks by exclusively right-sided myoclonus, rigidity, and dystonia. Within 4 weeks he was globally aphasic. He died within 7 weeks of onset. In the final week, rigidity and myoclonus became bilateral. CT and MRI were normal. SPECT showed diminished perfusion of the left hemisphere. EEG showed periodic discharges on the left. At autopsy, there were marked cortical spongiform change, neuronal loss, and gliosis throughout the left hemisphere and in the right occipital cortex. Elsewhere in the right hemisphere, spongiform change was non-existent to minimal. There was moderate spongiform change in the molecular layer of the cerebellar cortex, much more marked on the left. Clinical and pathological unilateral cerebral predominance extended to the ipsilateral cerebellum. Creutzfeldt-Jakob disease is an important consideration in patients with rapidly progressive unilateral cerebral signs associated with a movement disorder.
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PMID:Unilateral Creutzfeldt-Jakob disease presenting as rapidly progressive aphasia. 787 20


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