A NEW (2-REPEAT) OCTAPEPTIDE CODING INSERT MUTATION IN CREUTZFELDT-JAKOB-DISEASE

被引：61

作者：

GOLDFARB, LG ^{[1
]}

BROWN, P ^{[1
]}

LITTLE, BW ^{[1
]}

CERVENAKOVA, L ^{[1
]}

KENNEY, K ^{[1
]}

GIBBS, CJ ^{[1
]}

GAJDUSEK, DC ^{[1
]}

机构：

[1] LEHIGH VALLEY MED CTR,DEPT PATHOL,ALLENTOWN,PA

来源：

NEUROLOGY | 1993年 / 43卷 / 11期

关键词：

D O I：

10.1212/WNL.43.11.2392

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a family in which the proband died of clinically typical, neuropathologically verified Creutzfeldt-Jakob disease; her still-living mother suffers from a progressive dementia of many years' duration, and her maternal grandfather died after a similar illness. The proband, her mother, and two of three young first-degree relatives all have an identical insert mutation in the PRNP gene consisting of a twice-repeated 24-nucleotide sequence in the region between codons 51 and 91.

引用

页码：2392 / 2394

页数：3

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