PRION DISEASE-ASSOCIATED WITH A NOVEL 9 OCTAPEPTIDE REPEAT INSERTION IN THE PRNP GENE

被引：79

作者：

KRASEMANN, S

ZERR, I

WEBER, T

POSER, S

KRETZSCHMAR, H

HUNSMANN, G

BODEMER, W

机构：

[1] UNIV GOTTINGEN,KLINIKUM GOTTINGEN,DEPT NEUROL,D-37070 GOTTINGEN,GERMANY

[2] UNIV GOTTINGEN,KLINIKUM GOTTINGEN,INST NEUROPATHOL,D-37070 GOTTINGEN,GERMANY

来源：

MOLECULAR BRAIN RESEARCH | 1995年 / 34卷 / 01期

关键词：

PRION DISEASE; PRNP GENE; SPONGIFORM ENCEPHALOPATHY; OCTAPEPTIDE INSERTION;

D O I：

10.1016/0169-328X(95)00175-R

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Some cases of spongiform encephalopathies are linked to mutations within the prion protein gene (PRNP). Repetitive octapeptide insertions of variable length in the PRNP gene are also associated with spongiform encephalopathies, mostly familial Creutzfeldt-Jakob disease (CTD). In this study we report on a novel insertion mutation comprising nine extra octapeptide repeats between codons 51 and 91 of the PRNP gene. The affected patient showed a slowly progressive dementia of at least 6 years duration and ataxia.

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页码：173 / 176

页数：4

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