A new syndrome with quadrupedal gait, primitive speech, and severe mental retardation as a live model for human evolution.

The author has discovered a new syndrome with quadrupedal gait, flexed head and body, primitive speech, severe mental retardation, and mild cerebellar signs with a disturbed conscious experience. This syndrome was exhibited by 5 of 19 children from a consanguineous family. The pedigree demonstrated a typical autosomal-recessive inheritance. The genetic nature of this syndrome suggests a backward stage in human evolution, which is most probably caused by a genetic mutation, rendering, in turn, the transition from quadrupedality to bipedality. This would then be consistent with theories of punctuated evolution. On the other hand, the extensor motor system causing a resistance of the body against the gravity may actually be subjected to evolutionary forces. This new syndrome may be used as a live model for human evolution. An accompanying video clip for this article is available as a downloadable file accompanying the official online version of International Journal of Neuroscience. To access it, click on the issue link for 116(3), then select this article. A download option appears at the bottom of this abstract.