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 journalArticle

Abstract

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
Volume35
Issue number5
DOIs
Publication statusPublished - May 2014

Keywords

  • 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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