GERSTMANN-STRAUSSLER-SCHEINKER DISEASE
GERSTMANN-STRAUSSLER-SCHEINKER DISEASE
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DOI：
10.1007/978-1-4614-0653-2_10
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发表时间：
2012-01-01
影响因子：
3
通讯作者：
Liberski, Pawel P.
中科院分区：
文献类型：
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作者：
Liberski, Pawel P.
Gerstmann-Straussler-Scheinker(GSS)是一种进展缓慢的常染色体显性遗传性疾病(OMIM：137440)，也是人类首例发现PrP基因模仿的遗传性海绵状脑病。自21世纪以来，维也纳的神经精神病学家就已经知道了第一个“H”家族，1936年Gerstmann、Straussler和Scheinker报道了这一家族。在本章中，我们介绍了具有PRNP基因突变的GSS的临床、神经病理和分子数据：密码子102、105、117、131、145、187、198、202、212、217和232。在几个GSS家系中，导致突变的原因尚不清楚。
Gerstmann-Straussler-Scheinker (GSS) is a slowly progressive hereditary autosomal dominant disease (OMIM: 137440) and the first human transmissible spongiform encephalopathy (TSE) in which a imitation in a gene encoding for prion protein (PrP) was discovered. The first "H" family had been known by the Viennese neuropsychiatrists since the XXth century and was reported by Gerstmann, Straussler and Scheinker in 1936. In this chapter we present the clinical, neuropathological and molecular data on GSS with the mutations in the PRNP gene: at codons 102, 105, 117, 131, 145, 187, 198, 202, 212, 217 and 232. In several families with GSS the responsible mutations are unknown.