C9orf72 repeat length might influence clinical sub-phenotypes in dementia patients

Theresa König,Raphael Wurm,Tandis Parvizi,Sara Silvaieh,Christoph Hotzy,Hakan Cetin,Sigrid Klotz,Ellen Gelpi,Christian Bancher,Thomas Benke,Peter Dal-Bianco,Michaela Defrancesco,Peter Fischer,Josef Marksteiner,Hedwig Sutterlüty,Gerhard Ransmayr,Reinhold Schmidt,Alexander Zimprich,Elisabeth Stögmann

Neurobiology of Disease（2022）

引用 3|浏览4

暂无评分

摘要

•C9orf72 expansions were found in clinically diagnosed patients with dementia probably due to AD.•C9orf72 repeat expansion carriers show earlier disease onset compared to non-carriers.•Intermediate C9orf72 alleles act as potential disease modifiers in dementia-subtypes.

查看译文

关键词

C9orf72 hexanucleotide repeat expansion,Intermediate repeats,Neurodegenerative diseases,Alzheimer dementia (AD),Frontotemporal dementia (FTD),Early onset dementia,Disease modifier

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要