Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity.
Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity.
复制标题
聚类自闭症：在26个小鼠模型中使用神经解剖学差异来深入了解异质性。
DOI：
10.1038/mp.2014.98
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发表时间：
2015-02
影响因子：
11
通讯作者：
Lerch, J. P.
中科院分区：
文献类型：
--
作者：
Ellegood, J.;Anagnostou, E.;Babineau, B. A.;Crawley, J. N.;Lin, L.;Genestine, M.;DiCicco-Bloom, E.;Lai, J. K. Y.;Foster, J. A.;Penagarikano, O.;Geschwind, D. H.;Pacey, L. K.;Hampson, D. R.;Laliberte, C. L.;Mills, A. A.;Tam, E.;Osborne, L. R.;Kouser, M.;Espinosa-Becerra, F.;Xuan, Z.;Powell, C. M.;Raznahan, A.;Robins, D. M.;Nakai, N.;Nakatani, J.;Takumi, T.;van Eede, M. C.;Kerr, T. M.;Muller, C.;Blakely, R. D.;Veenstra-VanderWeele, J.;Henkelman, R. M.;Lerch, J. P.
自闭症是一种遗传性疾病，迄今已发现超过250个相关基因，但没有一个基因占病例的1-2%以上。其临床表现、行为症状、影像学和组织病理学结果具有显著的异质性。通过使用基于MRI的神经解剖表型分析来检查自闭症的多个遗传或行为小鼠模型，可以获得对自闭症的更完整的理解。对26种不同的小鼠模型进行了检查，并且在模型中始终发现异常的大脑区域是顶叶-颞叶、小脑皮质、额叶、下丘脑和纹状体。这些模型分为三个不同的集群，其中两个可以与自闭症中发现的连接不足和过度连接有关。这些聚类还确定了Nrxn 1 α、En 2和Fmr 1之间、Nlgn 3、BTBR和Slc 6A 4之间以及X单体性和Mecp 2之间的先前未知的联系。由于没有发现单一的自闭症治疗方法，使用神经解剖学对自闭症进行聚类并识别这些强连接可能被证明是预测治疗反应的关键一步。
Autism is a heritable disorder, with over 250 associated genes identified to date, yet no single gene accounts for more than 1–2% of cases. The clinical presentation, behavioural symptoms, imaging, and histopathology findings are strikingly heterogeneous. A more complete understanding of autism can be obtained by examining multiple genetic or behavioural mouse models of autism using MRI based neuroanatomical phenotyping. Twenty-six different mouse models were examined and the consistently found abnormal brain regions across models were the parieto-temporal lobe, cerebellar cortex, frontal lobe, hypothalamus, and the striatum. These models separated into three distinct clusters, two of which can be linked to the under and over-connectivity found in autism. These clusters also identified previously unknown connections between Nrxn1α, En2, and Fmr1; Nlgn3, BTBR, and Slc6A4; and also between X monosomy and Mecp2. With no single treatment for autism found, clustering autism using neuroanatomy and identifying these strong connections may prove to be a crucial step in predicting treatment response.
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影响因子：
1.3
作者：
COLLINS, DL;NEELIN, P;EVANS, AC
通讯作者：
EVANS, AC
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Amaral DG
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Amaral DG
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3.5
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Lerch JP;Gazdzinski L;Germann J;Sled JG;Henkelman RM;Nieman BJ
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Lord, Catherine
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Brodkin, Edward S.
通讯作者：
Brodkin, Edward S.