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)

We describe the first Danish family with dentatorubral-pallidoluysian atrophy (DRPLA), containing 16 clinically affected individuals in five generations. Inheritance is autosomal dominant. The disorder was diagnosed as Huntington's disease (HD), but analysis of the IT15 gene for HD revealed normal alleles. The diagnosis of DRPLA was based on the finding of elongated CAG repeats in the B37 gene on chromosome 12 in affected individuals. The age at onset ranged from 13 to 60 years, with the most severe clinical picture being associated with onset in childhood. Clinical features included varying combinations of dementia, euphoria, visuomotor disturbances, speech problems, ataxia, tremor, epilepsy and involuntary movements presenting as chorea, athetosis, and dystonia. We discuss characteristics of DRPLA that may enable the differentiation from HD on a clinical basis. In conclusion, DRPLA should be considered and DNA analysis is recommended in patients manifesting varying combinations of extrapyramidal and cerebellar symptoms, especially when clinical features show pronounced intrafamilial variability, and dyscoordination, tremor, myoclonus, epilepsy, and euphoria are part of the syndrome.
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PMID:Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family. 886 94

The incidence of complications associated with disease and treatment was compared in younger versus elderly patients with Parkinson's disease (PD). One hundred sixty-five patient records were divided according to patient age into two groups ("younger," 41 to 64, and "elderly," > or = 65 years) and reviewed for the incidence of dyskinesias, fluctuations, freezing, psychosis, dementia, depression, and insomnia. Younger patients had a greater incidence of chorea (75.8 percent vs 49.5 percent), dystonia (82.3 percent vs 49.0 percent), fluctuations (90.1 percent vs 68.1 percent), depression (73.2 percent vs 36.8 percent), and insomnia (57.9 percent vs 18.1 percent). There were no significant differences in the incidence of freezing, dementia, or psychosis. At the time of the first adverse event, there was no difference in patient characteristics such as gender, lag time from disease diagnosis to levodopa initiation, disease symptoms at the time of diagnosis, levodopa dose, or concomitant drug use despite the fact that the older group had a longer duration of disease, higher Hoehn and Yahr stage, an older age at onset of PD, and longer duration of levodopa use. Younger patients with PD experience a greater incidence of adverse effects than do elderly PD patients. The spectrum of adverse effects is comparable to those of young-onset (< or = 40 years) patients.
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PMID:Complications of disease and therapy: a comparison of younger and older patients with Parkinson's disease. 887 56

A 68 year-old man developed progressive hemidystonia and chorea 8 months after a contralateral thalamic stroke. The neurological examination also showed a right pyramidal syndrome without hemiparesis, a right horizontal sectoranopia, and a right hemihypesthesia for all sensory modalities. The MRI revealed infarctions in the left medial temporo-occipital lobes and left posterolateral thalamus, corresponding to the vascular territories of both the thalamo-geniculate and posterolateral choroidal arterial pedicles. The thalamic lesion involved the pulvinar, the lateral geniculate body, and the ventro-postero-lateral, dorso-lateral, posterolateral, and dorso-medial nuclei, but apparently did not extent to the ventrolateral thalamic nucleus, and the subthalamic and midbrain regions. Thalamic and striatopallidal dystonia have not a common pathophysiological mechanism. The involvement of the pulvinar nucleus and of the strategic crossing of proprioceptive, cerebellar, pyramidal, and subthalamic pathways may play a role in the genesis of the posterolateral thalamic dystonia.
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PMID:Delayed-onset hemidystonia and chorea following contralateral infarction of the posterolateral thalamus. A case report. 900 80

Parkinsonism, tremor, chorea-ballismus, dystonia, tardive dyskinesia, myoclonus, tics and akathisia can be induced by many drugs. The drugs that are most frequently implicated in movement disorders are antipsychotics, calcium antagonists, orthopramides and substituted benzamides (e.g. metoclopramide, sulpiride, clebopride, domperidone), CNS stimulants, antidepressants, anticonvulsants, antiparkinsonian drugs and lithium. It is possible for a single drug to induce 2 or more types of movement disorders in the same patient. Movement disorders are not always reversible after drug withdrawal.
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PMID:Drug-induced movement disorders. 909 56

The basal ganglia play important roles in the pathophysiology of various types of involuntary movement disorders, such as chorea, ballism, athetosis, dystonia, tremor and tics. These involuntary movements when occur in the childhood show the specific ages of onset and the courses. For example postural dystonia occurs in childhood but action dystonia tend to occur in later ages. Postural tremor occurs after the second decades but resting tremor does not occur in childhood. Furthermore drug induced dystonia but not levodopa induced dyskinesia occurs in childhood. The age dependent clinical features observed in these involuntary movements are thought to be due to the specific developmental processes of the pathway in the basal ganglia and its efferent projections, which are involved in the pathophysiology in the each disorder. For example, the dopamine activity is known to be increased in the striatum before ten years of age which decreases, rapidly during the first decade and further decreases in the next decade with the moderate degree till adult level. The direct pathway, which is predominant in the ventral area in the basal ganglia, matures earlier than the indirect pathway, which is predominant in the dorsal area. In this paper the pathophysiologies of the hereditary progressive dystonia with marked diurnal fluctuation, juvenile parkinsonism, idiopathic torsion dystonia, chorea, ballismus and tics, all of which occur in the childhood, are discussed from the view point of the age dependent specificities of the involved pathways in the basal ganglia and their projections during development.
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PMID:[The clinical characteristics of involuntary movements in childhood]. 914 24

Primary defects of mitochondrial DNA leading to respiratory chain dysfunction have been described in association with dystonia, chorea and parkinsonism. Myoclonus remains the commonest movement disorder associated with such defects. The genetic basis of Leigh's syndrome, which is frequently associated with movement disorders, may be mitochondrial or nuclear. Respiratory chain dysfunction has been identified in Huntington's disease in addition to Parkinson's disease, but the cause and relationship of this dysfunction to the pathogenesis of these common disorders is not yet determined.
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PMID:Movement disorders and mitochondrial dysfunction. 926 61

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.
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PMID:Intrafamilial heterogeneity of movement disorders: report of three cases in one family. 926 60

We present two clinically diagnosed cases of pontocerebellar hypoplasia with microcephaly and dyskinesia (pontocerebellar hypoplasia type 2) from two different Portuguese families. Both children presented neurological involvement from birth, progressive microcephaly, exuberant chorea and dystonia, myoclonic jerks, pontocerebellar hypoplasia, and progressive cerebral cortical atrophy. One child had consanguineous parents.
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PMID:Pontocerebellar hypoplasia with microcephaly and dyskinesia: report of two cases. 929 52

The pathophysiology of akinesia and chorea involve disruption of the motor basal ganglia circuit. This circuit begins with cortical output to the striatum, followed by projections from striatum to pallidum, pallidum to thalamus, and finally thalamus to cortex. Abnormal thalamic output to the frontal cortex, particularly the supplementary motor cortex, is responsible for chorea and akinesia. The substantia nigra and subthalamic nucleus are also important parts of this circuit. Chemical or pathological changes in these nuclei that lead to reduced thalamic outflow to the cortex are associated with parkinsonism. Most disorders affect the nigrostriatal dopaminergic projection. The overall consequence of loss of nigrostriatal dopamine is a loss of inhibitory input to the striatum. This feeds through the circuit resulting in reduced thalamic outflow. Local factors that may affect symptoms are the degree of dopamine loss, the involvement of ventral or dorsal parts of substantia nigra, effect on direct and indirect pallidal pathways, topographical representation of the body in the striatum, and the presence of parallel basal ganglia circuits serving cognition and mood. Ageing, dopa-responsive dystonia, juvenile dystonia-Parkinson syndrome and Parkinson's disease have different effects on the nigrostriatal tract. In Parkinson's disease the speed and regional variation in nigrostriatal dopamine loss are associated with a significant pre-symptomatic period, steady rate of progression and a particular topography of L-dopa dyskinesias.
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PMID:Functional neuropathology in Parkinson's disease. 938 99

Wilson's disease is an autosomal-recessive inherited disorder that results in predominantly hepatic and neurologic manifestations. Neurologic abnormalities include tremor, ataxia, bradykinesia, rigidity, chorea, and dystonia. We report the clinical, radiologic, and serial FDG PET findings in a 20-year-old woman who presented with an asymmetric upper limb tremor caused by Wilson's disease. Reduced striatal and cerebral cortical glucose metabolism was demonstrated on a FDG PET study performed before the commencement of D-penicillamine therapy. After 6 months of treatment, the patient had shown only minimal clinical improvement, despite an increase in striatal and cerebral cortical glucose metabolism on a repeat FDG PET study. After 14 months of treatment, however, a moderate clinical improvement was noted and there was further increase in glucose metabolism on FDG PET.
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PMID:Pretreatment and posttreatment positron emission tomographic scan imaging in a 20-year-old patient with Wilson's disease. 945 44


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