Erratum: A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia (Movement Disorders (2008) vol. 23 (1468-1471) 10.1002/mds.21953)
MOVEMENT DISORDERS(2008)
摘要
Ataxia is a frequently reported symptom in prion diseases (PD) and it is characteristic of Gerstmann-Straussler-Scheinker syndrome (GSS), a genetic PD mainly related to the P1021L mutation in the PRNP gene. Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, D202N, E200K, and V2101) a group of 206 consecutive patients diagnosed with adult-onset cerebellar ataxia of unknown origin. The patients, negative for the most common acquired and genetic forms, were analyzed using a combination of restriction endonuclease digestion and pyrose-quencing; eight, affected by ataxia and cognitive dysfunction, were also sequenced for the PRNP gene. (C) 2008 Movement Disorder Society.
更多查看译文
关键词
Gerstmann-Straussler-Scheinker syndrome,prion disease,PRNP,ataxia,dementia
AI 理解论文
溯源树
样例
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要