Abstract：
Schizophrenia (SCZ) is a well-studied neuropsychiatric condition that has been shown to have a high degree of genetic heritability. Still, little data on the specific genetic risk variants associated with the disease exists. Classification of the SCZ phenotype into SCZ-related endophenotypes is a promising methodology to parse out and elucidate the specific genetic risk variants for each. Here, we present a series of 17 previously reported individuals and a new proband with similar SCZ-related neuropsychiatric characteristics and shared brain imaging findings. Unsurprisingly, these individuals shared classic psychiatric features of SCZ. Interestingly, we also identified shared neuropsychiatric features in this series of individuals that had not been highlighted previously. A consistently decreased IQ, memory impairment, sleep and speech disturbances, and attention deficits were commonly reported findings. The brain imaging findings among these individuals also consistently showed posterior vermis predominant cerebellar hypoplasia (CBLH-V). Most individuals\' diagnoses were initially described as Dandy-Walker malformation; however, our independent review of imaging suggests a more consistent pattern of posterior vermis predominant cerebellar hypoplasia rather than true Dandy-Walker malformation. While the specific genetic risk variants for this endophenotype are yet to be described, the aim of this paper is to present the shared neuropsychiatric features and consistent, symmetrical brain image findings which suggest that this subset of individuals comprises an endophenotype of SCZ with a high genetic solve rate.
摘要：
精神分裂症（SCZ）是一种经过充分研究的神经精神疾病，已被证明具有高度的遗传遗传性。尽管如此，关于与该疾病相关的特定遗传风险变异的数据很少。将SCZ表型分类为SCZ相关的内表型是一种有前途的方法，可以解析和阐明每种特定的遗传风险变异。这里,我们提供了一系列17例以前报告的个体和一个新的先证者,这些人具有相似的SCZ相关神经精神病学特征和共同的脑影像学发现.毫不奇怪,这些人具有SCZ的经典精神病学特征。有趣的是,我们还确定了这一系列个体的共同神经精神病学特征,这些特征以前没有被突出显示.智商持续下降，记忆障碍,睡眠和言语障碍，注意力缺陷是通常报告的发现。这些人中的脑影像学检查结果也一致显示后椎主要小脑发育不全（CBLH-V）。大多数人的诊断最初被描述为Dandy-Walker畸形；然而，我们对影像学的独立审查表明,后骨疣占优势的小脑发育不全的模式更一致,而不是真正的Dandy-Walker畸形.虽然这种内表型的特定遗传风险变异还有待描述，本文的目的是提出共同的神经精神特征和一致性，对称的脑图像发现表明该个体子集包含具有高遗传解决率的SCZ内表型。
