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Realizing the gains and losses in C9ORF72 ALS/FTD

At the heart of C9ORF72-related amyotrophic lateral sclerosis and frontotemporal dementia (ALS /FTD) research lies the mechanistic question of whether disease is caused by toxic gain of function related to the repeat expansion, loss of endogenous C9ORF72 expression, or both. New findings provide insights to this question.

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Fig. 1: C9orf72 pathology may be a synergy of loss- and gain-of-function mechanisms.


  1. DeJesus-Hernandez, M. et al. Neuron 72, 245–256 (2011).

    Article  CAS  Google Scholar 

  2. Jiang, J. et al. Neuron 90, 535–550 (2016).

    Article  CAS  Google Scholar 

  3. Zhu, Q. et al. Nat. Neurosci. (2020).

    Article  PubMed  Google Scholar 

  4. Ash, P. E. et al. Neuron 77, 639–646 (2013).

    Article  CAS  Google Scholar 

  5. Gijselinck, I. et al. Lancet Neurol. 11, 54–65 (2012).

    Article  CAS  Google Scholar 

  6. Therrien, M., Rouleau, G. A., Dion, P. A. & Parker, J. A. PLoS One 8, e83450 (2013).

    Article  Google Scholar 

  7. Ciura, S. et al. Ann. Neurol. 74, 180–187 (2013).

    CAS  PubMed  Google Scholar 

  8. O’Rourke, J. G. et al. Science 351, 1324–1329 (2016).

    Article  Google Scholar 

  9. Burberry, A. et al. Sci. Transl. Med. 8, 347ra93 (2016).

    Article  Google Scholar 

  10. Chew, J. et al. Science 348, 1151–1154 (2015).

    Article  CAS  Google Scholar 

Download references

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Correspondence to Cathleen Lutz.

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Lutz, C. Realizing the gains and losses in C9ORF72 ALS/FTD. Nat Neurosci 23, 596–597 (2020).

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