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.
Cukurova University Medical School, Department of Physiology, Adana, Turkey. unertan@cu.edu.tr
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D000293:Adolescent; D000328:Adult; D000368:Aged; D005075:Biological Evolution; D005192:Family Health; D005260:Female; D005684:Gait / Q000502:physiology; D006801:Humans; D008607:Intellectual Disability / Q000503:physiopathology*; D007360:Intelligence / Q000502:physiology; D008297:Male; D008875:Middle Aged; D008954:Models, Biological; D009483:Neuropsychological Tests / Q000706:statistics & numerical data; D011782:Quadriplegia / Q000503:physiopathology*; D013060:Speech / Q000502:physiology; D013064:Speech Disorders / Q000503:physiopathology*; D016138:Walking / Q000502:physiology