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Am J Med Genet A. 2006 Aug 1;140(15):1617-22.

First report of prevalence of non-syndromic hereditary prosopagnosia (HPA).

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Institute of Human Genetics, Westfälische Wilhelms-Universität, Münster, Germany.


Acquired prosopagnosia (PA) is a rare condition after, for example, a stroke or brain injury. The congenital form of PA is generally considered to be even less common. Beside a few single case reports and anecdotal mentioning of familial cases no data on the epidemiology exists. Following a questionnaire-based screening in local secondary schools and at our medical faculty, candidates suspicious for PA underwent a semi-structured interview followed by examinations of first degree relatives. Among 689 local pupils and medical students of our university we found 17 with congenital PA. This corresponds to a prevalence rate of 2.47% (95% CI 1.31-3.63). The frequency is among the highest known for a monogenic disorder. All those index subjects (n = 14) of the target group who agreed to further examinations of their family members had other first degree relatives with the same cognitive disorder. This study provides epidemiological evidence that congenital PA is a very common cognitive disorder which almost always runs in families. The segregation pattern of this hereditary prosopagnosia (HPA) is fully compatible with autosomal dominant inheritance.

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