Cognitive heterogeneity in genetically based prosopagnosia: a family study.
Cognitive heterogeneity in genetically based prosopagnosia: a family study.
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基于遗传的面容失认症的认知异质性：一项家庭研究。
DOI：
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发表时间：
2008
影响因子：
2.2
通讯作者：
M. Coltheart
中科院分区：
文献类型：
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作者：
L. Schmalzl;Romina Palermo;M. Coltheart
先天性面孔失认症（CP）是一种从出生起就存在的识别熟悉面孔的选择性困难。有越来越多的证据表明，家族性因素在CP，可能是由于一个简单的常染色体遗传模式。然而，潜在的候选基因仍有待确定，而基于基因的CP是一种单一的特征，还是一组在面部处理系统的特定组成部分的损伤模式上不同的相关亚型，仍然没有答案。此外，由于迄今为止描述的绝大多数CP病例在调查时都是成年人，因此尚不清楚患有CP的幼儿的面部处理哪些特定方面受到损害。在这里，我们提出了第一项研究，通过阐明属于同一家庭四代的7名CP患者（年龄4-87岁）的面部识别障碍的具体机制，专门解决了这些问题。我们的研究结果表明，基于基因的CP不是一个单一的特征，而是一个相关亚型的集群，因为面部处理系统的特定成分的损伤模式在属于同一家族的个体中是不同的。此外，我们表明，从幼儿时期开始，CP在面部加工的特定方面的认知特征的异质性就很明显。
Congenital prosopagnosia (CP) is a selective difficulty in recognizing familiar faces that is present from birth. There is mounting evidence for a familial factor in CP, possibly due to a simple autosomal inheritance pattern. However, potential candidate genes remain to be established, and the question whether genetically based CP is a single trait, or a cluster of related subtypes differing in the pattern of impairments to specific components of the face-processing system, remains unanswered. In addition, since the great majority of so far described cases with CP were adult at the time of investigation, it remains unknown which specific aspects of face processing are impaired in small children with CP. Here we present the first study that specifically addresses these questions by elucidating the specific mechanisms underlying face-recognition impairments in seven individuals with CP (aged 4-87 years) belonging to four generations of the same family. Our results indicate that genetically based CP is not a single trait but a cluster of related subtypes, since the pattern of impairments to specific components of the face-processing system varies in individuals belonging to the same family. In addition, we show that the heterogeneity of the cognitive profile in CP with respect to specific aspects of face processing is apparent from early childhood.