Schmalzl Laura, Palermo Romina, Coltheart Max
Macquarie Centre for Cognitive Science, Macquarie University, Sydney, Australia.
J Neuropsychol. 2008 Mar;2(1):99-117. doi: 10.1348/174866407x256554.
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.
先天性面孔失认症（CP）是一种从出生就存在的识别熟悉面孔的选择性困难。越来越多的证据表明CP存在家族因素，这可能归因于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，基于基因的CP是单一性状，还是在面部处理系统特定成分的损伤模式上有所不同的一组相关亚型，这个问题仍未得到解答。此外，由于迄今为止所描述的绝大多数CP病例在调查时均为成年人，因此患有CP的幼儿面部处理的哪些具体方面受损仍不清楚。在此，我们展示了第一项专门针对这些问题的研究，通过阐明来自同一家族四代的7名CP患者（年龄在4至87岁之间）面部识别损伤的具体机制来进行研究。我们的结果表明，基于基因的CP不是单一性状，而是一组相关亚型，因为面部处理系统特定成分的损伤模式在同一家族的个体中有所不同。此外，我们表明，CP在面部处理特定方面的认知特征异质性在幼儿期就很明显。
