Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome (Pro102Leu)
Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome (Pro102Leu)
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DOI：
10.1212/01.wnl.0000218211.85675.18
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发表时间：
2006-06-13
期刊：
影响因子：
9.9
通讯作者：
Arimura, K.
中科院分区：
文献类型：
--
作者：
Arata, H.;Takashima, H.;Arimura, K.
目的：目的探讨PRNP（GSS 102）Pro 102 Leu突变引起的Gerstmann-Straussler-Scheinker综合征的临床和影像学特点。方法：作者报告了11例（9个家系）经临床和影像学诊断为GSS 102的患者。结果如下：所有患者均表现为轻度步态障碍、下肢感觉迟钝、反射减退和躯干共济失调，11例患者中有9例在疾病早期表现为近端下肢肌无力。早期痴呆不是主要症状。脑MRI和EEG异常最初并不突出。SPECT（N-异丙基-p-[ I-123]碘苯丙胺）分析的三维立体定向表面投影（SSP）方法检测到异常的5例患者在病程的早期。SPECT结果显示脑血流弥漫性减少，表现为马赛克图案，枕叶灌注最低。相比之下，小脑的血流得以保留。这些研究表明GSS 102的病理部位，主要病变可能位于大脑和脊髓（后角和脊髓小脑束）而不是小脑。结论：早期诊断PRNP（GSS 102）Pro 102 Leu突变引起的Gerstmann-Straussler-Scheinker综合征的关键特征是躯干共济失调、下肢感觉迟钝和反射减退以及轻度构音障碍。小脑MRI正常和脑SPECT异常是GSS 102早期的特征性表现。
Objective: To determine the clinical and radiologic features of Gerstmann-Straussler-Scheinker syndrome caused by Pro102Leu mutation in PRNP ( GSS102). Methods: The authors report 11 patients ( nine families) with clinically and radiologically diagnosed GSS102. Results: All patients showed mild gait disturbance, dysesthesia and hyporeflexia of the lower legs, and truncal ataxia, and 9 of 11 patients showed proximal leg muscle weakness during the early stage of the disease. Dementia was not a main symptom during the early stage. Brain MRI and EEG abnormalities were not prominent initially. SPECT ( N-isopropyl-p-[ I-123] iodoamphetamine) analyzed by the three-dimensional stereotactic surface projection ( SSP) method detected abnormalities in five patients early during the course of the illness. SPECT findings showed diffusely decreased cerebral blood flow, demonstrated by a mosaic pattern, with the lowest perfusion noted in the occipital lobes. In contrast, blood flow to the cerebellum was preserved. These studies suggested sites of pathology in GSS102, with the main lesions probably located in the cerebrum and the spinal cord ( posterior horn and spinocerebellar tract) instead of the cerebellum. Conclusions: Key features for early diagnosis of Gerstmann-Straussler-Scheinker syndrome caused by Pro102Leu mutation in PRNP ( GSS102) are truncal ataxia, dysesthesia and hyporeflexia of the lower legs, and mild dysarthria. Normal cerebellar MRI and abnormal cerebral SPECT findings are characters of early GSS102.