Face Blindness and a single gene flaw

Unfortunately I’m stuck with the press release on this one, my government-access VPN doesn’t seem good enough to get me this article at home. Face blindness, or prosopagnosia, is a condition where a person is unable to recognize another person by their face and must rely on other features, such as gait, hair, voice, or other features.

Recognition of faces can be disrupted by damage to the fusiform gyrus of the temporal lobe. Here, it seems the researchers have found a heritable genetic defect that leads to face blindness.

The 14 participants reported that they experienced uncertainty in social situations and difficulty recalling mental images of trees, leaves, or birds. They often have difficulty following movies or TV programs because they’re unable to distinguish between similar-looking actors.

I’d be interested in seeing this paper to determine if their developmental prosopagnosia is similar to the sort resulting from damage to the fusiform gyrus. It seems from the news story that they might have a general deficit in visual feature binding, which would make these family members wonderful subjects to study using brain imaging.
It is unusual to find a one gene=one behavior relationship. I highly doubt we have one here. Likely we have a mutation to a regulatory element that prevents certain brain areas from assembling their “normal” communicative pattern and thus disrupts some fairly obvious cognitive abilities. However, there may be other less obvious abilities disrupted as well, ones that can only be revealed by focused cognitive testing. I am curious as to whether this particular genetic oddity could be used in a laboratory setting to produce an animal model that could be used to address the binding problem. Argh, I need that paper!

4 Responses

  1. Yeah, I’ve got the full paper; I see why it’s published in a kinda obscure journal; there no actual genotyping, so no locus is pinned down. They say that the inheritance fits an “autosomal dominant inheritance” pattern, but it doesn’t seem to to me…

  2. That’s the feeling I got from the abstract and the press release. The PR, in particular, was pretty atrocious.
    Darn, that’s unfortunate.

  3. The link is here. I talked a bit about it here.

  4. And I can send it to you if you want…

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