Psychiatric Presentations of C9orf72 Mutation: What Are the Diagnostic Implications for Clinicians?

被引：69

作者：

Ducharme, Simon ^{[1
,2
,3
,4
]}

Bajestan, Sepideh ^{[5
]}

Dickerson, Bradford C. ^{[6
]}

Voon, Valerie ^{[7
]}

机构：

[1] Montreal Neurol Inst, Dept Psychiat, Montreal, PQ, Canada

[2] Montreal Neurol Inst, Dept Neurol, Montreal, PQ, Canada

[3] Montreal Neurol Inst, Dept Neurosurg, Montreal, PQ, Canada

[4] McGill Univ, Hlth Ctr, Montreal, PQ, Canada

[5] Stanford Univ Hosp, Dept Psychiat & Behav Sci, Palo Alto, CA USA

[6] Harvard Univ, Massachusetts Gen Hosp, Boston, MA 02115 USA

[7] Univ Cambridge, Dept Behav & Clin Neurosci, Inst Cambridge, Cambridge CB2 1TN, England

来源：

JOURNAL OF NEUROPSYCHIATRY AND CLINICAL NEUROSCIENCES | 2017年 / 29卷 / 03期

关键词：

HEXANUCLEOTIDE REPEAT EXPANSION; AMYOTROPHIC-LATERAL-SCLEROSIS; FRONTOTEMPORAL LOBAR DEGENERATION; BEHAVIORAL VARIANT; GGGGCC-REPEAT; RNA FOCI; ANTISENSE TRANSCRIPTS; DEMENTIA; PSYCHOSIS; PROTEINS;

D O I：

10.1176/appi.neuropsych.16090168

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The C9orf72 mutation was identified as the most frequent genetic cause of frontotemporal dementia (FTD). In light of multiple reports of predominant psychiatric presentations of FTD secondary to C9orf72 mutation, the American Neuropsychiatric Association Committee on Research reviewed all studies on psychiatric aspects of this mutation to identify clinically relevant features for diagnosis. The most common psychiatric presentation is psychosis (21% 256%), with delusions, and/or multi-modal hallucinations. Other presentations include late-onset mania and depression with cognitive impairment or catatonia. However, the frequency of C9orf72 mutations is low in typical schizophrenia or bipolar disorders (, 0.1%). The authors provide clinical guidance on diagnosis and genetic testing.

引用

页码：195 / 205

页数：11

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