C9orf72 hexanucleotide repeat expansions are not a common cause of obsessive-compulsive disorder.
C9orf72 hexanucleotide repeat expansions are not a common cause of obsessive-compulsive disorder.
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DOI：
10.1016/j.jns.2017.01.040
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发表时间：
2017-04-15
影响因子：
4.4
通讯作者：
Traynor BJ
中科院分区：
文献类型：
--
作者：
Arthur KC;Rivera AM;Samuels J;Wang Y;Grados M;Goes FS;Maher B;Nestadt G;Traynor BJ
强迫症（OCD）是一种多基因神经精神障碍，其特征是重复的想法和行为，导致痛苦。在C9 orf 72位点发现的致病性重复扩增[GGGGCC]n是肌萎缩侧索硬化症（ALS）和额颞叶痴呆（FTD）的最常见原因，并且在精神病和精神分裂症患者中也有记录。此外，在诊断为ALS和/或FTD并携带致病性重复扩增的患者中发现了强迫症和强迫行为。在这里，我们对573名被诊断为强迫症的患者进行了C9 orf 72重复扩增的遗传筛查。没有发现患者携带扩张器。结果表明，强迫症患者通常不携带致病性重复扩增，因此不应进行常规筛查。然而，对于C9 orf 72检测呈阳性的强迫症和精神病患者，应密切观察FTD和ALS的后期发展。
Obsessive-compulsive disorder (OCD) is a polygenic neuropsychiatric disorder characterized by repetitive thoughts and behaviors that cause distress. The pathogenic repeat expansion [GGGGCC]n found at the C9orf72 locus is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and has also been documented in patients with psychosis and schizophrenia. Furthermore, obsessions and compulsions have been identified in patients diagnosed with ALS and/or FTD and carrying the pathogenic repeat expansion. Here, we performed genetic screening for the C9orf72 repeat expansion on 573 patients diagnosed with OCD. None of the patients were found to carry the expansion. The results show that patients with OCD do not commonly carry the pathogenic repeat expansion and therefore should not be routinely screened. OCD and psychotic patients who do test positive for the C9orf72, however, should be closely observed for the later development of FTD and ALS.
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影响因子：
16.2
作者：
DeJesus-Hernandez M;Mackenzie IR;Boeve BF;Boxer AL;Baker M;Rutherford NJ;Nicholson AM;Finch NA;Flynn H;Adamson J;Kouri N;Wojtas A;Sengdy P;Hsiung GY;Karydas A;Seeley WW;Josephs KA;Coppola G;Geschwind DH;Wszolek ZK;Feldman H;Knopman DS;Petersen RC;Miller BL;Dickson DW;Boylan KB;Graff-Radford NR;Rademakers R
通讯作者：
Rademakers R
影响因子：
11.3
作者：
Watson, Annie;Pribadi, Mochtar;Nimgaonkar, Vishwajit
通讯作者：
Nimgaonkar, Vishwajit
影响因子：
14.5
作者：
Snowden, Julie S.;Rollinson, Sara;Pickering-Brown, Stuart M.
通讯作者：
Pickering-Brown, Stuart M.
影响因子：
16.2
作者：
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通讯作者：
Traynor BJ
全国合并症调查复制中强迫症的强迫症的流行病学。
影响因子：
11
作者：
Ruscio, A. M.;Stein, D. J.;Chiu, W. T.;Kessler, R. C.
通讯作者：
Kessler, R. C.