Maltese W A, De Vivo D C
Ann Neurol. 1984 Aug;16(2):250-2. doi: 10.1002/ana.410160215.
Cultured skin fibroblasts from patients with hereditary (recessive) torsion dystonia or adult-onset sporadic dystonia and from healthy volunteers were compared with respect to total cellular cholesterol, total phospholipid, and phospholipid composition. Differences that could be attributed specifically to dystonia were not detected. The data suggest that the reported cell membrane abnormality in recessive torsion dystonia does not involve a generalized defect in cholesterol or phospholipid metabolism.
对遗传性(隐性)扭转性肌张力障碍患者、成年期起病的散发性肌张力障碍患者以及健康志愿者的培养皮肤成纤维细胞进行了总细胞胆固醇、总磷脂和磷脂组成方面的比较。未检测到可明确归因于肌张力障碍的差异。数据表明,报道的隐性扭转性肌张力障碍中的细胞膜异常并不涉及胆固醇或磷脂代谢的普遍缺陷。