CASPR2 autoantibodies are raised during pregnancy in mothers of children with mental retardation and disorders of psychological development but not autism.
CASPR2 autoantibodies are raised during pregnancy in mothers of children with mental retardation and disorders of psychological development but not autism.
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DOI：
10.1136/jnnp-2016-315251
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发表时间：
2017-09
期刊：
影响因子：
--
通讯作者：
Vincent A
中科院分区：
文献类型：
--
作者：
Coutinho E;Jacobson L;Pedersen MG;Benros ME;Nørgaard-Pedersen B;Mortensen PB;Harrison PJ;Vincent A
母体对神经元蛋白的自身抗体可能是神经发育障碍的一个原因。这项探索性研究使用了丹麦存档的妊娠中期血清及其全国范围内的登记册，以寻找母体血清中n-甲基- d -天冬氨酸受体（NMDAR）和接触相关蛋白样2 （CASPR2）的抗体，并将其与妇女或其孩子随后的精神诊断联系起来。在192名妇女的样本中，抗体状态与母亲随后的精神病之间没有联系。然而，NMDAR抗体（n=4）或CASPR2抗体（n=1）在5/11（45.5%）被诊断为轻度或未明确的智力迟钝或心理和运动发育障碍（统称为智力迟钝和/或心理发育障碍（MR/DPD））的妇女中被检测出，而其余母亲的9/176（5.1%）被检测出（p<0.001）。这些发现在一个专门选择的队列中进行了随访，其中MR/DPD后代的母亲中有7/171（4.1%）检测到CASPR2抗体，而对照母亲中只有1/171（0.6%）检测到CASPR2抗体（p=0.067）。联合样本显示，MD/DPD患儿母亲的CASPR2抗体频率显著高于对照组（p=0.01）。这些自身抗体在患有自闭症谱系障碍儿童的母亲中没有增加。这些发现补充了已知的CASPR2在大脑发育中的作用，并需要进一步的流行病学和实验研究来阐明CASPR2和其他可能的抗体在神经发育障碍中的作用。
Maternal autoantibodies to neuronal proteins may be one cause of neurodevelopmental disorders. This exploratory study used the Danish archived midgestational sera and their nationwide registers to search for antibodies to the N-methyl-D-aspartate receptor (NMDAR) and contactin-associated protein-like 2 (CASPR2) in maternal sera, and to relate them to subsequent psychiatric diagnoses in the woman or her child. In a sample of 192 women, there was no association between antibody status and subsequent psychosis in the mothers. However, NMDAR antibodies (n=4) or CASPR2 antibodies (n=1) were identified in 5/11 (45.5%) women whose children were given a diagnosis of mild or unspecified mental retardation or disorders of psychological and motor development (collectively abbreviated as mental retardation and/or disorders of psychological development (MR/DPD)) compared with 9/176 (5.1%) of the remaining mother (p<0.001). These findings were followed up in a specifically selected cohort, in which CASPR2 antibodies were detected in 7/171 (4.1%) mothers of MR/DPD progeny, compared with only 1/171 (0.6%) control mother (p=0.067). The combined sample showed a significantly higher frequency of CASPR2 antibodies in mothers of MD/DPD children (p=0.01). These autoantibodies were not increased in mothers of children with autistic spectrum disorder. These findings complement the known roles of CASPR2 in brain development, and warrant further epidemiological and experimental studies to clarify the role of CASPR2 and possibly other antibodies in neurodevelopmental disorders.
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DOI：
10.1093/brain/awq113
发表时间：
2010-06
期刊：
Brain : a journal of neurology
影响因子：
--
作者：
Irani SR;Bera K;Waters P;Zuliani L;Maxwell S;Zandi MS;Friese MA;Galea I;Kullmann DM;Beeson D;Lang B;Bien CG;Vincent A
通讯作者：
Vincent A
影响因子：
3.4
作者：
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通讯作者：
Mortensen, Preben Bo
影响因子：
6.8
作者：
Braunschweig D;Krakowiak P;Duncanson P;Boyce R;Hansen RL;Ashwood P;Hertz-Picciotto I;Pessah IN;Van de Water J
通讯作者：
Van de Water J
DOI：
10.1073/pnas.1216398109
发表时间：
2012-10-30
影响因子：
11.1
作者：
Anderson, Garret R.;Galfin, Timothy;Suedhof, Thomas C.
通讯作者：
Suedhof, Thomas C.
DOI：
10.1093/brain/awq213
发表时间：
2010-09
期刊：
Brain : a journal of neurology
影响因子：
--
作者：
Irani SR;Alexander S;Waters P;Kleopa KA;Pettingill P;Zuliani L;Peles E;Buckley C;Lang B;Vincent A
通讯作者：
Vincent A