High-affinity choline uptake in cultured skin fibroblasts from individuals with dystonia

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.