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.

The C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia / D. Galimberti, A. Reif, B. Dell'Osso, S. Kittel Schneider, C. Leonhard, A. Herr, M.C. Palazzo, C. Villa, C. Fenoglio, M. Serpente, S.M.G. Cioffi, C. Prunas, R.A. Paoli, A.C. Altamura, E. Scarpini. - In: NEUROBIOLOGY OF AGING. - ISSN 0197-4580. - 35:5(2014), pp. 1214.e7-1214.e10. [10.1016/j.neurobiolaging.2013.12.004]

The C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia

D. Galimberti
;
B. Dell'Osso;C. Fenoglio;M. Serpente;C. Prunas;A.C. Altamura;E. Scarpini
Ultimo
2014

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.
C9ORF72 hexanucleotide repeat expansion; Clinical presentation; Dementia; Phenotype; Psychosis; Schizophrenia
Settore MED/25 - Psichiatria
Settore MED/26 - Neurologia
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/250912
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