title: High-affinity choline uptake in cultured skin fibroblasts from individuals with dystonia.
abstract: High-affinity (3H)choline uptake was compared in cultured skin fibroblasts derived from 15 normal volunteers and 21 unrelated individuals with primary childhood-onset dystonia. Dystonia cell lines did not differ significantly from the control cell lines, regardless of whether they were derived from individuals exhibiting a positive or negative response to anticholinergic drug therapy. The analysis was extended to members of a large non-Jewish kindred characterized by apparent autosomal dominant inheritance of dystonia. The rate of high-affinity [3H]choline uptake in cells from the affected members of the family did not differ significantly from that measured in the cell lines from unaffected individuals. The results suggest that a generalized cellular defect in high-affinity choline uptake is not involved in the pathogenesis of dystonia.
authors.affiliation: Department of Neurology, College of Physicians & Surgeons, Columbia University, New York, New York 10032.
authors.forename: W A
authors.initials: WA
authors.lastname: Maltese
authors.forename: D M
authors.initials: DM
authors.lastname: Doucette
mesh_terms: D002478:Cells, Cultured; D002794:Choline / Q000378:metabolism*; D004421:Dystonia / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D005347:Fibroblasts / Q000378:metabolism; D005799:Genes, Dominant; D006801:Humans; D012867:Skin / Q000378:metabolism* / Q000473:pathology
chemical_list: D002794:Choline