Tranchant C, Warter J M
Service des Maladies du Système Nerveux et du Muscle, Hôpitaux Universitaires, Strasbourg.
Rev Neurol (Paris). 1998 Feb;154(2):152-7.
The Gerstmann-Sträussler-Scheinker syndrome, is a disease transmitted by autosomal dominant inheritance characterized by nonsense mutations of the prion protein associated with specific neuropathological lesions-multicentric amyloid plaques labelled by antibodies directed against the prion protein. This restrictive definition justifies retaining the name of Gerstmann-Sträussler-Scheinder syndrome and excludes observations of hereditary prion diseases without multicentric amyloid plaques and sporadic forms with multicentric plaques. The main feature of these different observations is their polymorphous clinical presentation which varies not only between families with the same mutation but also with a given family. The underlying mechanisms of the phenotypic polymorphism remain uncertain.
格斯特曼-施特劳斯勒-谢inker综合征是一种常染色体显性遗传疾病，其特征为朊蛋白的无义突变，伴有特定的神经病理损伤——由针对朊蛋白的抗体标记的多中心淀粉样斑块。这种严格的定义证明保留格斯特曼-施特劳斯勒-谢inder综合征这一名称是合理的，并且排除了无多中心淀粉样斑块的遗传性朊病毒疾病观察结果以及有多中心斑块的散发性病例。这些不同观察结果的主要特征是其多形性临床表现，不仅在具有相同突变的家族之间有所不同，而且在同一个家族中也会有所变化。表型多态性的潜在机制仍然不确定。
