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Links Between the C9orf72 Repeat Expansion and Psychiatric Symptoms

  • Dementia (K.S. Marder, Section Editor)
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Abstract

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.

Summary

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.

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Authors and Affiliations

  1. The Taub Institute for Research on Alzheimer’s Disease and the Aging Brain and the Gertrude H. Sergievsky Center, Columbia University Irving Medical Center, 630 West 168th Street, P&S Box 16, New York, NY, 10032, USA

    Hannah E. Silverman, Jill S. Goldman & Edward D. Huey

  2. Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA

    Hannah E. Silverman, Jill S. Goldman & Edward D. Huey

  3. Department of Psychiatry, Columbia University Irving Medical Center, New York, NY, USA

    Edward D. Huey

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Correspondence to Edward D. Huey.

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

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Silverman, H.E., Goldman, J.S. & Huey, E.D. Links Between the C9orf72 Repeat Expansion and Psychiatric Symptoms. Curr Neurol Neurosci Rep 19, 93 (2019). https://doi.org/10.1007/s11910-019-1017-9

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