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

A 12-year-old boy was admitted to our hospital in May 1990. Since two years previously, he became restless and could not adapt himself to his new school mates and teacher. He came to refuse going to school, and his intellectual performance rapidly deteriorated, thereafter. During the following two years, he gradually became mutic and incontinent with dystonic involuntary movements, and was admitted to our hospital. Examination revealed melanoderma, mutism, dementia and grossly normal visual and auditory system except for bilateral optic atrophy. Volitional movements were severely limited because of marked truncal and extreme dystonia and spastic paresis. Urinary 17-KS and 17-OHCS were decreased. Serum cortisol did not increase normally on rapid ACTH test. Very-long-chain fatty acids in serum were increased. Serial CTs and MRI demonstrated marked ventricular dilatation and diffuse white-matter lesions involving the frontal lobes, corpus callosum, internal capsules, and less markedly parieto-occipital regions with slight calcification in the optic radiations. Those in the frontal lobes had been visualised in CTs taken 18 months after the onset. School refusal, the initial symptoms of the patient, is one of serious socioeducational problems in Japan. While the majority of children with school refusal might be of non-organic affections, those with apparent mental deterioration and behavioral abnormalities should undergo non-invasive CT or MRI evaluation during the early stage of the disorder. And if diffuse white matter lesions is suggested even in the frontal lobe, the possibility of adrenoleuko-dystrophy should be considered.
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PMID:[A case of adrenoleukodystrophy having progressed from the frontal lobes]. 142 38

The movement disorder investigated in these studies has some features in common with human idiopathic dystonia, and information obtained in these studies may be of potential clinical benefit. The present experimental results indicated that peptidergic stimulation of the LC resulted in a NE-mediated inhibition of cerebellar Purkinje cells located at terminals of the ceruleo-cerebellar pathway. However, it is not certain as to the following: (a) what receptors were stimulated by the ACTH N-terminal fragments at the LC that resulted in this disorder; (b) whether NE, released onto Purkinje cell synapses located at terminals of the ceruleo-cerebellar pathway, did indeed cause the long-term depression at Purkinje cell synapses (previously described by others) that resulted in the long duration of the movement disorder; (c) whether the inhibition of inhibitory Purkinje cells resulted in disinhibition or increased excitability of the unilateral cerebellar fastigial or interpositus nuclei, the output targets of the Purkinje cell axons, that may have been an important contributing factor to this disorder. These questions are currently being investigated.
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PMID:A dystonia-like syndrome after neuropeptide (MSH/ACTH) stimulation of the rat locus ceruleus. 284 Aug 7

N-terminal fragments of adrenocorticotropin (ACTH) was reported to exert potent 'dystonia'-like effects on posture and locomotion following a unilateral microinjection into the rat brainstem. The high reliability of this phenomenon provided a suitable animal model for the study of these actions. The present structure-activity study showed that ACTH1-39, in contrast to its N-terminal fragments, did not have any 'dystonic' actions, however transient or slight. Thus, the folded conformation of [1-39] in vivo may prevent its N-terminal region from interacting with those CNS sites that trigger 'dystonic' actions. These results suggest that genetically-linked human dystonia may have originated in part as a consequence of a mutation in the processing of the ACTH molecule, resulting in an aberrantly-folded conformation that allows its N-terminal region to trigger the dystonic syndrome.
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PMID:'Dystonia'-like postural asymmetry after microinjection of ACTH N-terminal fragments but not after ACTH1-39 in rat brainstem suggests role of neuropeptide mutation in genetic movement disorder. 632 Sep 78

Encephalopathy with electrical status epilepticus during sleep or ESES is an age-dependent and self-limited syndrome whose distinctive features include a characteristic age of onset (with a peak around 4-5 years), heterogeneous seizures types (mostly partial motor or unilateral seizures during sleep and absences or falls while awake), a typical EEG pattern (with continuous and diffuse paroxysms occupying at least 85% of slow wave sleep) and a variable neuropsychological regression consisting of IQ decrease, reduction of language (as in acquired aphasia or Landau-Kleffner syndrome), disturbance of behaviour (psychotic states) and motor impairment (in the form of ataxia, dyspraxia, dystonia or unilateral deficit). Despite the long-term favourable outcome of epilepsy and status epilepticus during sleep (SES), the prognosis is guarded because of the persistence of severe neuropsychological and/or motor deficits in approximately half of the patients. No specific treatment has been advocated for this syndrome, but valproate sodium, benzodiazepines and ACTH have been shown to control the seizures and the SES pattern in many cases, although often only temporarily. Subpial transection is proposed in some instances as in non-regressive acquired aphasia. Recent data support the concept that ESES syndrome may include a large subset of developmental or acquired regressive conditions of infancy.
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PMID:Encephalopathy with electrical status epilepticus during slow sleep or ESES syndrome including the acquired aphasia. 1099 61