Department of Neurology, Chushang Show-Chwan Hospital, No. 75, Sec. 2, Chi-Shang Rd, Chushang Jenn, 557, Nantou county, Taiwan, ROC.
Department of Neurology, Chung-Shan Medical University Hospital, Taichung City, Taiwan, ROC.
J Neurol. 2018 Mar;265(3):478-485. doi: 10.1007/s00415-017-8723-5. Epub 2017 Dec 30.
We studied the presynaptic nigrostriatal dopaminergic function using single photon emission computed tomography (SPECT) imaging of a Tc-TRODAT-1 (TRODAT) scan in a dopa-responsive dystonia (DRD) family with the guanosine triphosphate cyclohydrolase 1 (GCH-1) gene mutation. Clinically, there was presentation of intrafamilial variability in the DRD family. The index patient was a 10-year-old girl with classic DRD and normal presynaptic nigrostriatal dopaminergic function. However, her grandmother, a 79-year-old woman, presented with slowly progressive Parkinson's disease (PD) without dystonic symptoms and excellent response to dopaminergic therapy for 21 years. Her brain TRODAT SPECT imaging revealed a markedly and asymmetrically reduced uptake of dopamine transporter at the bilateral striatum. Her father, a 54-year-old man, was an asymptomatic gene carrier and his brain TRODAT SPECT imaging revealed asymmetrically reduced nigrostriatal dopaminergic transmission in the bilateral striatum. We conclude variability of presynaptic nigrostriatal dopaminergic function in patients with DRD is related to their clinical heterogeneity. Significantly, impairment of presynaptic dopamine function actually occurs in the asymptomatic gene carrier.
我们使用 Tc-TRODAT-1（TRODAT）扫描的单光子发射计算机断层扫描（SPECT）成像研究了具有鸟苷三磷酸环化水解酶 1（GCH-1）基因突变的多巴反应性肌张力障碍（DRD）家族的突触前黑质纹状体多巴胺能功能。临床上，DRD 家族存在家族内变异性的表现。索引患者是一名 10 岁女孩，患有典型的 DRD 和正常的突触前黑质纹状体多巴胺能功能。然而，她 79 岁的祖母表现为进展缓慢的帕金森病（PD），没有肌张力障碍症状，并且对多巴胺能治疗有 21 年的出色反应。她的大脑 TRODAT SPECT 成像显示双侧纹状体多巴胺转运体摄取明显且不对称减少。她 54 岁的父亲是无症状的基因携带者，他的大脑 TRODAT SPECT 成像显示双侧纹状体黑质纹状体多巴胺能传递不对称减少。我们得出结论，DRD 患者突触前黑质纹状体多巴胺能功能的变异性与其临床异质性有关。重要的是，实际上无症状的基因携带者存在突触前多巴胺功能障碍。
