title: Acetylcholinesterase activity in patients with torsion dystonia. Measurement in erythrocyte membranes.
abstract: 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.
mesh_terms: D000110:Acetylcholinesterase / Q000032:analysis*; D000293:Adolescent; D000328:Adult; D004422:Dystonia Musculorum Deformans / Q000201:enzymology*; D004910:Erythrocyte Membrane / Q000201:enzymology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged
chemical_list: D000110:Acetylcholinesterase