Links Between the C9orf72 Repeat Expansion and Psychiatric Symptoms

  • Hannah E. Silverman
  • Jill S. Goldman
  • Edward D. HueyEmail author
Dementia (K.S. Marder, Section Editor)


Purpose of Review

To present recent findings on the links between the C9orf72 expansion and psychiatric impairment.

Recent Findings

Repeat hexanucleotide expansions in the C9orf72 gene are a cause of familial frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), and the mixed phenotype, FTD-ALS. Symptomatic expansion carriers display higher rates of psychotic and other psychiatric symptoms than non-carriers. Neuroanatomical associations of these symptoms have been found in cortical and subcortical areas. Family members of symptomatic carriers have higher rates of primary neuropsychiatric disorders than control populations, and the C9orf72 expansion may contribute to this association. However, the expansion does not appear to directly cause primary psychiatric disorders.


While there is strong evidence associating the C9orf72 expansion with psychotic symptoms in carriers and psychiatric disorders in their kindreds, the link between these two phenomena, if any, remains unclear.


C9orf72 Psychiatric Frontotemporal dementia Amyotrophic lateral sclerosis 


Compliance with Ethical Standards

Conflict of Interest

Hannah E. Silverman, Jill S. Goldman, and Edward D. Huey each declare no potential conflicts of interest.

Human and Animal Rights and Informed Consent

All reported studies/experiments with human or animal subjects performed by the authors have been previously published and complied with all applicable ethical standards (including the Helsinki declaration and its amendments, institutional/national research committee standards, and international/national/institutional guidelines).


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Hannah E. Silverman
    • 1
    • 2
  • Jill S. Goldman
    • 1
    • 2
  • Edward D. Huey
    • 1
    • 2
    • 3
    Email author
  1. 1.The Taub Institute for Research on Alzheimer’s Disease and the Aging Brain and the Gertrude H. Sergievsky CenterColumbia University Irving Medical CenterNew YorkUSA
  2. 2.Department of NeurologyColumbia University Irving Medical CenterNew YorkUSA
  3. 3.Department of PsychiatryColumbia University Irving Medical CenterNew YorkUSA

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