C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis
C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis
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DOI：
10.1016/j.psychres.2015.12.007
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发表时间：
2016-01-30
影响因子：
11.3
通讯作者：
Nimgaonkar, Vishwajit
中科院分区：
文献类型：
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作者：
Watson, Annie;Pribadi, Mochtar;Nimgaonkar, Vishwajit
C9 orf 72中的病理性六核苷酸重复扩增导致额颞叶痴呆（FTD）或肌萎缩侧索硬化（ALS）。行为异常也可能发生在FTD突变携带者中，但尚不确定此类突变是否发生在精神病患者中。在一项精神病遗传学研究的参与者中（N=739），两对相关个体有C9 orf 72扩增，其中三人被诊断为精神分裂症（SZ）情感障碍（SZA），但他们的临床特征并不提示痴呆或ALS。少数SZ/SZA患者携带C9 orf 72重复扩增;此类个体极有可能发生FTD/ALS。(C)2015爱思唯尔爱尔兰有限公司版权所有。
A pathologic hexanucleotide repeat expansion in C9orf72 causes frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS). Behavioral abnormalities can also occur among mutation carriers with FTD, but it is uncertain whether such mutations occur among persons with psychoses per se. Among participants in a genetic study of psychoses (N=739), two pairs of related individuals had C9orf72 expansions, of whom three were diagnosed with schizophrenia (SZ) schizoaffective disorder (SZA), but their clinical features did not suggest dementia or ALS. A few patients with SZ/SZA carry C9orf72 repeat expansions; such individuals are highly likely to develop FTD/ALS. (C) 2015 Elsevier Ireland Ltd. All rights reserved.