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editorial

. 2023 Oct 17;12(6):1821–1843. doi: 10.1007/s40120-023-00548-8

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc/4.0/.

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Fig. 1 — Proposed C9ORF72 disease mechanisms. The C9ORF72 (GGGGCC) hexanucleotide repeat expansion is thought to contribute to disease pathogenesis in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) via three non-mutually exclusive mechanisms: (1) a loss of function due to impaired transcription leading to a reduction in C9ORF72 protein levels; (2) a toxic gain of function due to the formation of secondary RNA structures which sequester RNA binding proteins and consequently a loss of function of these proteins; (3) a toxic gain of function due to repeat-associated non-ATG (RAN) translation from both the sense and antisense strand, which generates potentially toxic dipeptide repeats (DPRs; poly-GP, poly-GA, poly-GR, poly-PA, poly-PR)