The C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia

Daniela Galimberti, Andreas Reif, Bernardo Dell'Osso, Sarah Kittel-Schneider, Christine Leonhard, Alexandra Herr, Carlotta Palazzo, Chiara Villa, Chiara Fenoglio, Maria Serpente, Sara M G Cioffi, Cecilia Prunas, Riccardo A. Paoli, A. Carlo Altamura, Elio Scarpini

Research output: Contribution to journalArticlepeer-review


A hexanucleotide repeat expansions in the first intron of C9ORF72 has been shown to be responsible for a high number of familial cases of amyotrophic lateral sclerosis and/or frontotemporal lobar degeneration. The same mutation has been described in a patient with bipolar disorder, but up to now, not in patients suffering from schizophrenia. We determined the frequency of the C9ORF72 hexanucleotide repeat expansions in a population of 298 patients with schizophrenia or schizoaffective disorder. The pathogenic repeat expansion was detected in 2 patients (0.67%). Both of them presented with auditory hallucinations and had comorbid alcohol abuse. In addition, a positive family history for psychiatric and/or neurodegenerative diseases was present. The repeat expansion in the C9ORF72 gene is a rare, but possible, cause of schizophrenic spectrum disorders. We cannot rule out however whether the number of repeats influence the phenotype.

Original languageEnglish
JournalNeurobiology of Aging
Issue number5
Publication statusPublished - May 2014


  • C9ORF72 hexanucleotide repeat expansion
  • Clinical presentation
  • Dementia
  • Phenotype
  • Psychosis
  • Schizophrenia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Ageing
  • Developmental Biology
  • Geriatrics and Gerontology


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