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Abstract Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are devastating neurodegenerative diseases linked by similar pathological mechanisms, which, in some familial forms, may be associated with the same genetic alterations. Among them, the most common is the C9ORF72 (C9) mutation. The C9 mutation consists in an aberrant expansion of the hexanucleotide repeat (G4C2)n that leads to the production and accumulation of toxic dipeptide repeat proteins (DPRs).
CONFLICT OF INTEREST STATEMENT The authors declare no conflicts of interest. Supporting Information Filename Description jemt24651-sup-0001-Supinfo.docxWord 2007 document , 6.8 MB Data S1. Supplementary Information. REFERENCES , , & (2022). In vitro brain organoids and computational models to study cell death in brain diseases. In A. Jahani-Asl (Ed.), Neuronal cell death. Methodsin molecular biology (Vol. 2515, pp. 281–296). Springer.
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