Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy

被引：28

作者：

Dagvadorj, A

Petersen, RB

Lee, HS

Cervenakova, L

Shatunov, A

Budka, H

Brown, P

Gambetti, P

Goldfarb, LG

机构：

[1] NINDS, NIH, Bethesda, MD 20892 USA

[2] Case Western Reserve Univ, Sch Med, Dept Pathol, Cleveland, OH 44106 USA

[3] Univ Cincinnati, Med Ctr, Dept Environm Hlth, Ctr Genome Informat, Cincinnati, OH 45267 USA

[4] Amer Red Cross, Jerome H Holland Lab, Rockville, MD USA

[5] Univ Vienna, Inst Neurol, Reference Ctr Human Prion Dis, Vienna, Austria

来源：

ANNALS OF NEUROLOGY | 2002年 / 52卷 / 03期

关键词：

D O I：

10.1002/ana.10267

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We analyzed the prion protein gene (PRNP) region in patients with transmissible spongiform encephalopathy associated with the PRNP D178N mutation. The results suggest that the D178N chromosomes had independent origins in each affected pedigree or apparently sporadic case. A de novo spontaneous PRNP mutation was observed. We provide evidence that hereditary and apparently sporadic transmissible spongiform encephalopathy cases associated with the D178N mutation result from multiple recurrent mutational events.

引用

页码：355 / 359

页数：5

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