Unertan syndrome: a case series demonstrating human devolution.

A large family with six individuals exhibiting the Unertan syndrome (UTS) was identified residing in southern Turkey. All of the individuals had mental impairments and walked on all four extremities. The practice of intra-familial marriages suggested that the UTS may be an autosomal recessive disorder, similar to previously described cases. The inferior portions of the cerebellum and vermis were absent as evidenced by MRI and CT scans. The height and head circumference of those affected were within normal ranges. Barany's test suggested normal vestibular system function. The subjects could not name objects or their close relatives. The males (n = 4) could understand simple questions and commands, but answered questions with only one or two sounds. The females (n = 2) were superior to the males with respect to language skills and walking, suggesting an association between walking and speaking abilities. One male exhibited three walking patterns at the same time: quadripedal, tiptoe, and scissor walking. Another male used two walking styles: quadripedal and toe-walking. It is emphasized that there are important differences between the UTS and the disequilibrium syndrome. It is suggested that the inability to walk upright in those affected with the UTS may be best explained by a disturbance in lateral-balance mechanisms, without being related to the cerebello-vestibular system. An interruption of locomotor development during the transition from quadripedality to bipedality may result in habitual walking on all four extremities and is normal in some children. Because quadripedal gait is an ancestral trait, individuals with the UTS, exhibiting a manifestation of reverse evolution in humans, may be considered an experiment of nature, useful in understanding the mechanisms underlying the transition from quadripedality to bipedality during human evolution. The proposed mutant gene or gene pool playing a role in human quadrupedality may also be responsible for human bipedality at the same time. Herein there is no intent to insult or injure; rather, this report is an endeavor to better understand human beings. Supplementary materials are available for this article. Go to the publisher's online edition of International Journal of Neuroscience for the following free supplemental resource(s): video clips.