Disease mechanisms and therapeutic approaches in c9orf72 als-ftd

Keith Mayl, Christopher E. Shaw, Youn Bok Lee*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

7 Citations (Scopus)


A hexanucleotide repeat expansion mutation in the first intron of C9orf72 is the most common known genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Since the discovery in 2011, numerous pathogenic mechanisms, including both loss and gain of function, have been proposed. The body of work overall suggests that toxic gain of function arising from bidirectionally transcribed repeat RNA is likely to be the primary driver of disease. In this review, we outline the key pathogenic mechanisms that have been proposed to date and discuss some of the novel therapeutic approaches currently in development.

Original languageEnglish
Article number601
Issue number6
Publication statusPublished - Jun 2021


  • ALS
  • C9orf72
  • FTD
  • RNA
  • Therapies


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