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C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia.

Neurobiology of aging - 1 May 2014

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

Abstract excerpt

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...

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Identifiers

PMID: 24387986
DOI: 10.1016/j.neurobiolaging.2013.12.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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