MRI analysis of an inherited speech and language disorder: structural brain abnormalities
MRI analysis of an inherited speech and language disorder: structural brain abnormalities
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DOI：
10.1093/brain/awf057
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发表时间：
2002-03-01
期刊：
影响因子：
14.5
通讯作者：
Gadian, DG
中科院分区：
文献类型：
--
作者：
Watkins, KE;Vargha-Khadem, F;Gadian, DG
对遗传性语言和语言障碍的大脑结构的分析为确定神经生物学表型和进一步阐明语言及其发育的神经基础提供了机会。在这里，我们报道了一个被称为柯氏家族的大家庭的这种调查，该家族的一半成员受到严重的言语和语言障碍的影响，这种障碍是作为常染色体显性单基因特征传递的。应用两种形态计量学方法对与本病相关的脑结构异常进行研究。基于体素的形态计量学方法被用来比较三组受试者的大脑灰质数量：柯氏家族患病成员、未患病成员和一组年龄匹配的对照组。这一方法揭示了一些主要与运动和语言相关的大脑区域，在这些区域中，受影响的家庭成员的灰质数量与未受影响的组和对照组的灰质数量显著不同，后者彼此没有区别。这些区域中有几个是双侧异常的，包括尾状核，这是特别令人感兴趣的，因为在一项相关的PET研究中也发现这个结构显示出功能异常。我们对这个结构进行了更详细的体积分析。结果证实，在受影响的家庭成员中，与未受影响的成员和年龄匹配的对照组相比，受影响的家庭成员的双侧核体积都减小了。这种体积的减少在核的上部最为明显。在韦氏智力量表的口述练习测试、非单词重复测试和编码子测试中，尾状核体积与受累家庭成员的表现显著相关。因此，这些结果进一步证明了该核的异常发育与KE家族报告的口部运动控制和发音障碍之间的关系。
Analyses of brain structure in genetic speech and language disorders provide an opportunity to identify neurobiological phenotypes and further elucidate the neural bases of language and its development. Here we report such investigations in a large family, known as the KE family, half the members of which are affected by a severe disorder of speech and language, which is transmitted as an autosomal-dominant monogenic trait. The structural brain abnormalities associated with this disorder were investigated using two morphometric methods of MRI analysis. A voxel-based morphometric method was used to compare the amounts of grey matter in the brains of three groups of subjects: the affected members of the KE family, the unaffected members and a group of age-matched controls. This method revealed a number of mainly motor- and speech-related brain regions in which the affected family members had significantly different amounts of grey matter compared with the unaffected and control groups, who did not differ from each other. Several of these regions were abnormal bilaterally, including the caudate nucleus, which was of particular interest because this structure was also found to show functional abnormality in a related PET study. We performed a more detailed volumetric analysis of this structure. The results confirmed that the volume of this nucleus was reduced bilaterally in the affected family members compared with both the unaffected members and the group of age-matched controls. This reduction in volume was most evident in the superior portion of the nucleus. The volume of the caudate nucleus was significantly correlated with the performance of affected family members on a test of oral praxis, a test of non-word repetition and the coding subtest of the Wechsler Intelligence Scale. These results thus provide further evidence of a relationship between the abnormal development of this nucleus and the impairments in oromotor control and articulation reported in the KE family.