Department of Neurology, Nowon Eulji Medical Center, Eulji University, Seoul, Korea.
Department of Neurology, Seoul National University Hospital, Seoul, Korea.
J Korean Med Sci. 2018 May 24;33(28):e184. doi: 10.3346/jkms.2018.33.e184. eCollection 2018 Jul 9.
Previously, we defined DRD as a syndrome of selective nigrostriatal dopamine deficiency caused by genetic defects in the dopamine synthetic pathway without nigral cell loss. DRD-plus also has the same etiologic background with DRD, but DRD-plus patients have more severe features that are not seen in DRD because of the severity of the genetic defect. However, there have been many reports of dystonia responsive to dopaminergic drugs that do not fit into DRD or DRD-plus (genetic defects in the dopamine synthetic pathway without nigral cell loss). We reframed the concept of DRD/DRD-plus and proposed the concept of DRD look-alike to include the additional cases described above. Examples of dystonia that is responsive to dopaminergic drugs include the following: transportopathies (dopamine transporter deficiency; vesicular monoamine transporter 2 deficiency); mutation resulting in a developmentally decreased number of nigral cells; degenerative disorders with progressive loss of nigral cells (juvenile Parkinson's disease; pallidopyramidal syndrome; spinocerebellar ataxia type 3), and disorders that are not known to affect the nigrostriatal dopaminergic system (DYT1; GLUT1 deficiency; myoclonus-dystonia; ataxia telangiectasia). This classification will help with an etiologic diagnosis as well as planning the work up and guiding the therapy.
先前，我们将 DRD 定义为一种选择性黑质纹状体多巴胺缺乏综合征，由多巴胺合成途径中的遗传缺陷引起，而黑质细胞没有丢失。DRD-plus 也具有与 DRD 相同的病因背景，但由于遗传缺陷的严重程度，DRD-plus 患者的特征更为严重，在 DRD 中没有见到。然而，已经有许多报道称，一些对多巴胺能药物有反应的肌张力障碍并不符合 DRD 或 DRD-plus（多巴胺合成途径中的遗传缺陷，而黑质细胞没有丢失）。我们重新定义了 DRD/DRD-plus 的概念，并提出了 DRD 类似物的概念，以包括上述额外的病例。对多巴胺能药物有反应的肌张力障碍的例子包括以下几种：转运病（多巴胺转运体缺乏症；囊泡单胺转运体 2 缺乏症）；导致黑质细胞数量在发育过程中减少的突变；黑质细胞进行性丢失的退行性疾病（青少年帕金森病；苍白球 pyramidal 综合征；脊髓小脑共济失调 3 型），以及已知不会影响黑质纹状体多巴胺能系统的疾病（DYT1；GLUT1 缺乏症；肌阵挛-肌张力障碍；共济失调毛细血管扩张症）。这种分类将有助于病因诊断，以及进行检查和指导治疗。
