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Age-based risk estimates for <i>C9orf72</i> <sup>RE</sup> -related diseases: Theoretical developments and added value for genetic counseling

2025-08-12

Abstract excerpt

The C9orf72 hexanucleotide repeat expansion is the most common genetic cause of amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD). In genetic counseling, children of mutation carriers are often told that they have a 50% risk of carrying the mutation, but this figure does not take into account the fact that penetrance is age-related, with a unimodal distribution of disease onset around 58 years...

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Literature Corpus work
ab7d66d6-65ef-5e80-9c93-aa8e8c8327de
DOI
10.1101/2025.08.08.25333050
Open publication

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Age-based risk estimates for <i>C9orf72</i> <sup>RE</sup> -related diseases: Theoretical developments and added value for genetic counselingDOI 10.1101/2025.08.08.25333050
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