Article
C9orf72 repeat length might influence clinical sub-phenotypes in dementia patients.
Neurobiology of disease - 1 Dec 2022
König Theresa, Wurm Raphael, Parvizi Tandis, Silvaieh Sara, Hotzy Christoph, Cetin Hakan, Klotz Sigrid, Gelpi Ellen, Bancher Christian, Benke Thomas, Dal-Bianco Peter, Defrancesco Michaela, Fischer Peter, Marksteiner Josef, Sutterlüty Hedwig, Ransmayr Gerhard, Schmidt Reinhold, Zimprich Alexander, Stögmann Elisabeth
Abstract excerpt
BACKGROUND: C9orf72 repeat expansions have been observed in a wide variety of neurodegenerative disorders. The cut-off between normal and pathogenic alleles is not well established as repeat sizing methods are often semi-quantitative. However, intermediate alleles might influence disease prevalence and phenotype, as seen for other repeat expansion disorders. We aimed to further delineate the prevalence of small,...
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