Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.1.7 (acetylcholinesterase)
 28,390 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Anticholinergic therapy provides symptomatic relief in many patients with dystonia. The mechanism underlying this therapeutic action is poorly understood; however, one possibility is that the degradation of acetylcholine is perturbed in these conditions. To investigate this possibility, acetylcholinesterase activity was measured in erythrocyte membranes from healthy volunteers and patients with torsion dystonia. Enzyme activities in erythrocytes from 14 patients with adult-onset, childhood-onset idiopathic, and childhood-onset familial dystonias did not differ significantly from activities measured in erythrocyte membranes from 17 healthy volunteers. Moreover, when blood samples from several members of a family with dominant inheritance of dystonia were assayed simultaneously, similar enzyme activities were found in the affected and unaffected individuals. The data suggest that a generalized acetylcholinesterase deficiency is not involved in the pathogenesis of torsion dystonia.
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PMID:Acetylcholinesterase activity in patients with torsion dystonia. Measurement in erythrocyte membranes. 397 44

The interrelationships were studied between catecholaminergic and cholinergic systems in 169 patients with extrapyramidal system diseases: 68 patients with torsion dystonia (58 with the rigid form and 10 with the hyperkinetic form), 10 with Hallervorden-Spatz disease, 61 with hepatolenticular degeneration, and in 40 with idiopathic tremor. The secretion of dopamine (DA), noradrenaline (NA), adrenaline (A) and their precursor--DOPA) as well as the activity of acetylcholinesterase (AChe)--the enzyme disintegrating acetylcholine--were determined. In the rigid form of torsion dystonia and in Hallervorden-Spatz disease reduced secretion of all catecholamines (mainly DA) and DOPA was observed, with decreased AChE activity. In the hyperkinetic form of torsion dystonia the secretion of DA was increased and AChE activity was higher. In the patients with idiopathic tremor the secretion of A and NA was decreased and AChE activity was reduced. In patients with hepatolenticular degeneration the secretion of NA and DA was decreased and that of their immediate precursor DOPA was increased. Changes of AChE activity showed a wide range. The observed disturbances reflect various forms of disturbances in the equilibrium between the catecholaminergic and cholinergic systems which are one of the leading pathogenetic mechanisms in the development of various extrapyramidal syndromes.
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PMID:[Characteristics of central neurotransmitter metabolism in hereditary extrapyramidal disorders]. 732 5