Neuropathologic Features in Adults with 22q11.2 Deletion Syndrome
Neuropathologic Features in Adults with 22q11.2 Deletion Syndrome
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DOI：
10.1093/cercor/bhn066
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发表时间：
2009-01-01
期刊：
影响因子：
3.7
通讯作者：
Bassett, A. S.
中科院分区：
文献类型：
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作者：
Kiehl, T. R.;Chow, E. W. C.;Bassett, A. S.
22q11.2缺失综合征（22qDS）是人类最常见的微缺失综合征。它的多系统表现包括先天性异常和神经精神障碍，如精神分裂症。结构神经成像显示各种异常，但没有死后大脑研究存在。我们报告的神经病理学结果，从一个队列的100名成年人证实22q11.2缺失的3个人。三人都有精神分裂症。病例1为44岁男性，尸检发现双侧脑室旁结节性异位于额叶，异位神经元散在于额叶白色物质。例2（男，22岁）和例3（女，52岁）未显示出迁移异常的证据，但两例均具有广泛的星形细胞胶质增生和脑白色物质中巨噬细胞的局灶性聚集，提示脑血管病变。对队列中其他66例受试者的磁共振成像结果进行回顾，发现26例精神分裂症受试者中有1例出现多小回畸形，另1例出现右侧小脑结构紊乱。结果支持先前的神经影像学报告，表明神经元迁移异常可能是22qDS的一个特征。早期发育的脑异常和胎儿和后来的微血管病理可能在22 qDS的神经精神表型的发病机制中起作用，包括白色物质异常和精神分裂症。
The 22q11.2 deletion syndrome (22qDS) is the most common microdeletion syndrome in humans. Its multisystem manifestations include congenital anomalies and neuropsychiatric disorders such as schizophrenia. Structural neuroimaging shows various abnormalities, but no postmortem brain studies exist. We report neuropathologic findings in 3 individuals from a cohort of 100 adults with a confirmed 22q11.2 deletion. All 3 had schizophrenia. Postmortem examination of Case 1, a 44-year-old male, revealed bilateral periventricular nodular heterotopia in the frontal lobes and ectopic neurons scattered throughout the frontal white matter. Cases 2 (male, aged 22 years) and 3 (female, 52 years) showed no evidence of migration abnormalities, but both had extensive astrocytic gliosis and focal collections of macrophages in the cerebral white matter, suggestive of cerebrovascular pathology. Review of magnetic resonance imaging findings available for 66 other subjects in the cohort revealed polymicrogyria in one and right cerebellar disorganization in another of the 26 subjects with schizophrenia. The results support previous neuroimaging reports suggesting that neuronal migration abnormalities may be a feature of 22qDS. Both early developmental brain abnormalities and fetal and later microvascular pathology may play a role in the pathogenesis of the neuropsychiatric phenotype of 22qDS, including white matter abnormalities and schizophrenia.