Department of Neurology, Ludwig-Maximilians-Universität, Munich, Germany.
Mov Disord. 2013 Feb;28(2):241-4. doi: 10.1002/mds.25188.
Parkinsonism with dopa-sensitivity and a correlating DaTSCAN turned out to be due to a D202N mutation which is associated with the Gerstmann-Sträussler-Scheinker (GSS) disease.
METHODS/RESULTS: We report a 51-year old female who presented with left-dominant parkinsonism and a positive DaTSCAN. She was diagnosed with idiopathic Parkinson's syndrome. Dopaminergic medication reduced her symptoms. In addition, punding-like behavior, deficits in organizing daily life and abnormal sleep behavior were reported. Neuropsychological testing, EEG, polysomnography as well as PET imaging with fluorodexyglucose (FDG), [F-18]-desmethoxyfallypride (DMFP), and [C-11]-6-OH-BTA-1 (PIB) were not diagnostic. Cerebral spinal fluid analysis revealed no 14-3-3 protein, but elevated neuron-specific enolase (NSE) and S100-beta and a very low phospho-tau/total-tau ratio. Analysis of the prion gene disclosed the rare D202N mutation.
The D202N prion mutation has been associated with GSS pathology and up to now was only reported post mortem. Our patient is the very first case diagnosed in vivo.
具有多巴胺敏感性的帕金森病和相应的 DaTSCAN 结果表明是由于 D202N 突变引起的，该突变与 Gerstmann-Straussler-Scheinker（GSS）疾病相关。
方法/结果：我们报告了一位 51 岁的女性，她表现为左侧优势帕金森病和 DaTSCAN 阳性。她被诊断为特发性帕金森综合征。多巴胺能药物减轻了她的症状。此外，还报告了类似强迫行为、日常生活组织能力缺陷和异常睡眠行为。神经心理学测试、EEG、多导睡眠图以及氟脱氧葡萄糖（FDG）、[F-18]-去甲氧基氟丙嗪（DMFP）和[C-11]-6-OH-BTA-1（PIB）的正电子发射断层扫描成像均无诊断意义。脑脊液分析未发现 14-3-3 蛋白，但神经元特异性烯醇化酶（NSE）和 S100-β升高，磷酸化 tau/总 tau 比值非常低。朊病毒基因分析显示出罕见的 D202N 突变。
D202N 朊病毒突变与 GSS 病理学有关，迄今为止仅在死后报告过。我们的患者是首例体内诊断的病例。
