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神经学检查异常具有遗传性吗?一项初步研究。

Are neurologic examination abnormalities heritable? A preliminary study.

作者信息

Sanders R D, Joo Y H, Almasy L, Wood J, Keshavan M S, Pogue-Geile M F, Gur R C, Gur R E, Nimgaonkar V L

机构信息

Dayton VA, Dayton, OH, USA.

出版信息

Schizophr Res. 2006 Sep;86(1-3):172-80. doi: 10.1016/j.schres.2006.06.012. Epub 2006 Jul 18.

Abstract

BACKGROUND

Neurologic examination abnormalities (NEA) are more prevalent among patients with schizophrenia as well as their unaffected relatives when compared with healthy controls, suggesting that NEA may be endophenotypes for schizophrenia. We estimated the heritability of NEA in moderately sized pedigrees. We also evaluated correlations between NEA and cognitive performance in order to examine their construct validity.

METHODS

Members of eight extended families, each consisting of two first degree relatives with schizophrenia/schizoaffective disorders, as well as available first- to fifth-degree relatives were examined (n=96 participants). A modification of the Neurological Evaluation Scale (NES) was employed, augmented with localizing signs. Where feasible, we used untransformed data such as error counts and completion time, rather than ordinal measures. Heritability was estimated using the variance component method, implemented in SOLAR.

RESULTS

Statistically significant heritability (h2) estimates were obtained for several measures (p<0.05, h2+/-standard error: rapid alternating movements, right-sided completion time, 0.99+/-0.19; alternating fist-palm test, completion time, 0.77+/-0.19 s, errors, 0.70+/-0.32; fist-ring test, right-sided completion time, 0.53+/-0.23 s, left-sided completion time, 0.70+/-0.21 s; go-no go task, correct responses, 0.93+/-0.33; audio-visual integration, correct responses, 0.79+/-0.54). For most items, heritability analysis was hampered by insufficient data variability (infrequent errors). Correlational analyses show some degree of divergence among types of NEA, repetitive motor tasks being associated with most domains of cognitive functioning other than executive functioning, and cognitive-perceptual tasks being associated with memory and executive functioning.

CONCLUSIONS

Significant familial influences on certain aspects of neurologic performance were detected. These heritable measures were also correlated with heritable neurocognitive measures.

摘要

背景

与健康对照相比,精神分裂症患者及其未患病亲属的神经学检查异常(NEA)更为普遍,这表明NEA可能是精神分裂症的内表型。我们估计了中等规模家系中NEA的遗传度。我们还评估了NEA与认知表现之间的相关性,以检验它们的结构效度。

方法

对八个大家庭的成员进行了检查(n = 96名参与者),每个大家庭由两名患有精神分裂症/分裂情感障碍的一级亲属以及可用的一至五级亲属组成。采用了改良的神经学评估量表(NES),并增加了定位体征。在可行的情况下,我们使用未转换的数据,如错误计数和完成时间,而不是序数测量。使用在SOLAR中实现的方差成分法估计遗传度。

结果

对几种测量获得了具有统计学意义的遗传度(h2)估计值(p < 0.05,h2 ± 标准误差:快速交替运动,右侧完成时间,0.99 ± 0.19;交替握拳 - 手掌试验,完成时间,0.77 ± 0.19秒,错误,0.70 ± 0.32;握拳 - 环试验,右侧完成时间,0.53 ± 0.23秒,左侧完成时间,0.70 ± 0.21秒;停止信号任务,正确反应,0.93 ± 0.33;视听整合,正确反应,0.79 ± 0.54)。对于大多数项目,遗传度分析因数据变异性不足(错误不常见)而受到阻碍。相关分析表明,NEA类型之间存在一定程度的差异,重复性运动任务与除执行功能外的大多数认知功能领域相关,而认知 - 感知任务与记忆和执行功能相关。

结论

检测到对神经学表现某些方面的显著家族影响。这些可遗传的测量指标也与可遗传的神经认知测量指标相关。

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