Takeshima Shinichi, Takeda Ikuko, Kobatake Keitaro, Yamashita Toru, Abe Koji, Kuriyama Masaru
Department of Neurology, Brain Attack Center Ota Memorial Hospital.
Rinsho Shinkeigaku. 2015;55(4):243-7. doi: 10.5692/clinicalneurol.55.243.
A 57-year-old man was admitted to our hospital because of bradykinesia. He was diagnosed with Parkinson disease (Hoehn and Yahr grade 2) and administered levodopa at the maximum dose of 800 mg. However, his condition did not improve. While his symptoms were responsive to levodopa therapy, the sensitivity to the drug was poor. Brain MRI revealed atrophy of the upper vermis and cerebral hemispheres, and brain SPECT revealed low perfusion in both parietal lobes. I(123)-metaiodobenzylguanidine scintigraphy showed a decrease in the heart/mediastinum ratio. Striatal dopamine transporter (DAT) density was evaluated using I(123)-FP-CIT. The patient showed moderately reduced DAT density, which suggested nigrostriatal dopaminergic damage. His mother was found to have pure cerebellar ataxia without parkinsonism, and her two siblings also had celebellar type of multiple system atrophy (MSA-C) and progressive supranuclear palsy, respectively. Genetic testing revealed that the patient, his mother and the uncle with MSA-C had spinocerebellar ataxia type 6 (SCA6). SCA6 presenting parkinsonism without ataxia is very rare and important for the pathomechanism of disease.
一名57岁男性因运动迟缓入院。他被诊断为帕金森病（霍恩和亚尔分级2级），并接受了最大剂量为800毫克的左旋多巴治疗。然而，他的病情并未改善。虽然他的症状对左旋多巴治疗有反应，但对该药物的敏感性较差。脑部MRI显示上蚓部和大脑半球萎缩，脑部SPECT显示双侧顶叶灌注减低。碘（123）-间碘苄胍闪烁显像显示心/纵隔比值降低。使用碘（123）-FP-CIT评估纹状体多巴胺转运体（DAT）密度。患者显示DAT密度中度降低，提示黑质纹状体多巴胺能损害。他的母亲被发现患有无帕金森病的单纯小脑性共济失调，她的两个兄弟姐妹分别患有小脑型多系统萎缩（MSA-C）和进行性核上性麻痹。基因检测显示，该患者、他的母亲以及患有MSA-C的舅舅患有6型脊髓小脑共济失调（SCA6）。表现为无共济失调的帕金森病的SCA6非常罕见，对疾病的发病机制具有重要意义。
