C9orf72 repeat length might influence clinical sub-phenotypes in dementia patients
Neurobiology of Disease(2022)
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.
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关键词
C9orf72 hexanucleotide repeat expansion,Intermediate repeats,Neurodegenerative diseases,Alzheimer dementia (AD),Frontotemporal dementia (FTD),Early onset dementia,Disease modifier
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