Galatioto S, Ruggeri D, Gullotta F
Dipartimento di Patologia Umana, dell'Università, Policlinico G. Martino Messina.
Pathologica. 1995 Dec;87(6):659-65.
A case of Gerstmann-Sträussler-Scheinker syndrome observed in a 54 year-old woman is reported. The disease lasted over 4 years and was mainly characterized by ataxia and progressive dementia. The patient belongs to a Sicilian family and some of her relatives have been (or still are) affected by similar clinical syndromes. The neuropathological investigation disclosed an impressive number of PAS-positive amyloid deposits (plaques) in the cortex of the cerebrum and in particular of the cerebellum, in the basal ganglia and thalami as well. These plaques were of different size and morphology: multicentric and Kuru-like, cotton-wool and Alzheimer-like, compact and punctate. In some of them, remnants of dystrophic neurites were detected with ubiquitin-reaction and with the metallic method of Gallyas. No reactions were observed with tau-protein, GFAP and Campbell's method. The immunohistochemical investigations for prion-protein, kindly performed by Prof. Kretzschmar (Goettingen) confirmed that the plaques did not contain beta-protein A4, but reacted positively with anti-prion-protein. These results confirmed the diagnosis of GSS syndrome. The importance on an exact neuropathological investigation employing immunohistochemical reactions and metallic methods in every case of progressive degenerative encephalopathy with PAS-positive (amyloid) deposits (dementia of Alzheimer type, suspected Prion-encephalopathies, etc.) is emphasized. Potential infectivity of the tissue in prion-encephalopathies is deactivated soaking the blocks for histology in formic acid (95-100%) for one hour, followed by formalin for at least three days. Moreover the pretreatment with formic acid does enhance the positivity of PAS-reaction.
报告了一例在一名54岁女性中观察到的格斯特曼-施特劳斯勒-谢inker综合征病例。该病持续了4年多，主要特征为共济失调和进行性痴呆。该患者来自西西里岛的一个家族，她的一些亲属已经（或仍然）患有类似的临床综合征。神经病理学检查发现，在大脑皮质尤其是小脑皮质、基底神经节和丘脑中有大量PAS阳性淀粉样沉积物（斑块）。这些斑块大小和形态各异：多中心且类似库鲁病的、棉絮状且类似阿尔茨海默病的、致密且点状的。在其中一些斑块中，用泛素反应和加利亚斯金属法检测到营养不良性神经突的残余物。用tau蛋白、GFAP和坎贝尔法未观察到反应。由克雷茨施马尔教授（哥廷根）好心进行的朊病毒蛋白免疫组化研究证实，这些斑块不含β蛋白A4，但与抗朊病毒蛋白呈阳性反应。这些结果证实了GSS综合征的诊断。强调了在每一例伴有PAS阳性（淀粉样）沉积物的进行性退行性脑病（阿尔茨海默型痴呆、疑似朊病毒脑病等）病例中，采用免疫组化反应和金属法进行精确神经病理学检查的重要性。对于朊病毒脑病中的组织潜在传染性，将用于组织学检查的组织块在甲酸（95 - 100%）中浸泡1小时，然后在福尔马林中浸泡至少3天可使其失活。此外，甲酸预处理确实增强了PAS反应的阳性率。
