Goldfarb L G, Brown P, Goldgaber D, Asher D M, Rubenstein R, Brown W T, Piccardo P, Kascsak R J, Boellaard J W, Gajdusek D C
Laboratory of CNS Studies, NINDS, NIH, Bethesda, Maryland 20892.
Exp Neurol. 1990 Jun;108(3):247-50. doi: 10.1016/0014-4886(90)90130-k.
We and others have recently reported that patients with the Gerstmann-Sträussler-Scheinker syndrome have a mutation at codon 102 of the gene coding for amyloid protein that accumulates in this disease. We report here that this mutation was not found in 5 familial and 27 sporadic cases of Creutzfeldt-Jakob disease or in 3 patients with kuru, so that although this mutation may be responsible for amyloidogenesis and transmissibility in Gerstmann-Sträussler-Scheinker syndrome, it cannot be the only cause of human spongiform encephalopathy.
我们和其他人最近报道，患有格斯特曼-施特劳斯勒-谢inker综合征的患者，其编码在该疾病中积聚的淀粉样蛋白的基因第102密码子处发生了突变。我们在此报告，在5例家族性和27例散发性克雅氏病病例或3例库鲁病患者中未发现这种突变，因此，尽管这种突变可能是格斯特曼-施特劳斯勒-谢inker综合征中淀粉样蛋白生成和传染性的原因，但它不可能是人类海绵状脑病的唯一病因。
