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Unertan syndrome: a case series demonstrating human devolution.

Uner Tan1, Sibel Karaca, Meliha Tan

  • 1Cukurova University, Faculty of Sciences, Department of Physics, Adana, Turkey. unertan37@yahoo.com

The International Journal of Neuroscience
|November 29, 2007
PubMed
Summary
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Unertan syndrome (UTS) causes mental impairment and quadrupedal walking in affected individuals. This rare genetic disorder may offer insights into human bipedal evolution and locomotion development.

Area of Science:

  • Neurogenetics
  • Developmental Biology
  • Evolutionary Anthropology

Background:

  • Unertan syndrome (UTS) is a rare genetic disorder characterized by severe mental impairment and habitual quadrupedal locomotion.
  • The syndrome was identified in a consanguineous family in southern Turkey, suggesting an autosomal recessive inheritance pattern.

Observation:

  • Affected individuals displayed significant cognitive deficits, including the inability to name objects or relatives.
  • Motor function was characterized by exclusive reliance on all-fours locomotion, with variations in gait patterns observed.
  • Neuroimaging revealed the absence of the inferior cerebellum and vermis, while vestibular function appeared normal.

Findings:

  • UTS presents a unique phenotype distinct from other neurological disorders like disequilibrium syndrome.

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  • The inability to ambulate upright is hypothesized to stem from lateral-balance mechanism disturbances rather than cerebello-vestibular dysfunction.
  • Females in the family demonstrated superior language and walking skills compared to males, indicating potential sex-linked influences.

    • Implications:

    • UTS provides a potential model for studying the evolutionary transition from quadrupedality to bipedality in humans.
    • Understanding the genetic and developmental basis of UTS could illuminate the mechanisms underlying human bipedalism.
    • This condition represents a 'natural experiment' for exploring the genetic underpinnings of human locomotion and evolution.