The C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia

被引：49

作者：

Galimberti, Daniela ^{[1
]}

Reif, Andreas ^{[2
]}

Dell'Osso, Bernardo ^{[3
]}

Kittel-Schneider, Sarah ^{[2
]}

Leonhard, Christine ^{[2
]}

Herr, Alexandra ^{[2
]}

Palazzo, Carlotta ^{[3
]}

Villa, Chiara ^{[1
]}

Fenoglio, Chiara ^{[1
]}

Serpente, Maria ^{[1
]}

Cioffi, Sara M. G. ^{[1
]}

Prunas, Cecilia ^{[3
]}

Paoli, Riccardo A. ^{[3
]}

Altamura, A. Carlo ^{[3
]}

Scarpini, Elio ^{[1
]}

机构：

[1] Univ Milan, Dept Pathophysiol & Transplantat, Neurol Unit, Fdn Ca Granda,IRCCS Osped Policlin, Milan, Italy

[2] Univ Wurzburg, Dept Psychiat Psychosomat & Psychotherapy, Wurzburg, Germany

[3] Univ Milan, Dept Pathophysiol & Transplantat, Psichiatry Unit, Fdn Ca Granda,IRCCS Osped Policlin, Milan, Italy

来源：

NEUROBIOLOGY OF AGING | 2014年 / 35卷 / 05期

关键词：

Dementia; Schizophrenia; Psychosis; C9ORF72 hexanucleotide repeat expansion; Phenotype; Clinical presentation; FRONTOTEMPORAL LOBAR DEGENERATION; DEMENTIA;

D O I：

10.1016/j.neurobiolaging.2013.12.004

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

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. (C) 2014 Elsevier Inc. All rights reserved.

引用

页码：1214.e7 / 1214.e10

页数：4

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