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Two New Cases of Uner Tan Syndrome: One Man with Transition from Quadrupedalism to Bipedalism; One Man with Consistent Quadrupedalism

Tan, Prof. Dr. Uner (2010) Two New Cases of Uner Tan Syndrome: One Man with Transition from Quadrupedalism to Bipedalism; One Man with Consistent Quadrupedalism. [Journal (Paginated)]

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Abstract

Background: Uner Tan syndrome, first described in 2005, consists of three main symptoms: habitual locomotion on all four extremities, impaired intelligence, and dysarthric or no speech. This extremely rare syndrome shows an autosomal recessive inheritance due to consanguineous marriages between parents. In general, there is a cerebellovermial hypoplasia with a mild gyral simplification in the cerebral cortex. Truncal ataxia is the main neurological finding, causing difficulty in standing and upright walking on two legs. Methods: As soon as the new cases came to light, the family was visited. After taking the basic information about the family members, the traditional neurological examinations were performed, MRI scans of the patients and of a healthy family member were taken in a hospital nearest to the residence (a small village near Kars, Turkey). The patients were also filmed to analyze their walking patterns. Results: Two individuals (case 1, 44y; case 2, 43y) among six siblings from a family with consanguineous parents exhibited Uner Tan syndrome, with quadrupedalism, impaired intelligence, and dysarthric speech. Their pedigree suggested an autosomal recessive inheritance. MRI scans showed inferior cerebellovermial and pontobulbar hypoplasia. Case 1 did not display hypotonia, while case 2 had been hypotonic for two years after birth. Case 2’s hypotonia progressively disappeared, and at three years old he started to sit, and could walk on all fours by the age of four. Case 1 was quadrupedal for 20 years, and then walked upright with the aid of a walking stick. Tendon reflexes were normal in case 1 but hyperactive in the lower extremities of case 2; Babinsky was absent in case 1 but bilaterally present in case 2. There was no nystagmus, no strabismus, and no pes pedus in either case. Cognition was severely impaired in both. Conclusion: The emergence of quadrupedalism during development, with a transition into bipedalism in case 1, and the emergence of the quadrupedalism after a full hypotonia and no locomotion in case 2, were considered as examples of the processes of adaptive self-organization, from the viewpoint of dynamic systems theory.

Item Type:Journal (Paginated)
Keywords:Uner Tan syndrome, locomotion, quadrupedalism, speech, ataxia, self-organization
Subjects:Neuroscience > Neurology
ID Code:7035
Deposited By:Tan, Prof. Dr. Uner
Deposited On:18 Oct 2010 12:04
Last Modified:11 Mar 2011 08:57

References in Article

Select the SEEK icon to attempt to find the referenced article. If it does not appear to be in cogprints you will be forwarded to the paracite service. Poorly formated references will probably not work.

1. Tan U. Unertan syndrome; quadrupedality, primitive

language, and severe mental

retardation; a new theory on the evolution of human

mind. Neuro Quantol 2005;4:250–5.

2. Tan U. A new syndrome with quadrupedal gait,

primitive speech, and severe mental

retardation as a live model for human evolution. Int

J Neurosci 2006; 116: 361-70.

3. Tan U. Discovery of Unertan syndrome and reverse

evolution as an “Aha” experience.

NeuroQuantol 2008; 6: 80-3.

4. Tan U. Uner Tan syndrome: history, clinical

evaluations, genetics, and the dynamics of

human quadrupedalism. Open Neurol J 2010;

4:78-89.

5. Tan U. Evidence for “Unertan Syndrome” and the

evolution of the human mind. Int J

Neurosci 2006; 116: 763-4.

6. Tan U. Evidence for “Unertan syndrome” as a

human model for reverse evolution. Int J

Neurosci 2006; 116: 1539-47.

7. Tan U, Karaca S, Tan M. et al. Unertan syndrome:

a case series demonstrating human

devolution. Int J Neurosci 2008; 118: 1-25.

Webmedcentral > Research articles Page 5 of 11

WMC00645 Downloaded from http://www.webmedcentral.com on 17-Sep-2010, 06:11:12 PM

8. Tan, U. Unertan syndrome: review and report of

four new cases. Int J Neurosci 2008; 118:

211-25.

9. Schurig V, Oram AV, Bowen P. Nonprogressive

cerebellar disorder with mental

retardation and autosomal recessive inheritance in

Hutterites. Am J Med Genet 1981; 8:

43-53.

10. Nystuen A, Benke PJ, Merren J, Stone EM,

Sheffield VC. A cerebellar ataxia locus

identified by DNA pooling to search for linkage

disequilibrium in an isolated population

from the Cayman islands. Hum Mot Genet 1996; 5:

525-31.

11. Tan U, Tan M. A new variant of Unertan syndrome:

running on all fours in two

upright-walking children. Int J Neurosci 2009; 119:

909-18.

12. Tan U. A wrist-walker exhibiting no “Unertan

Syndrome”: a theory for possible

mechanisms of human devolution toward the

atavistic walking patterns. Int J Neurosci

2007; 117: 147-56.

13. Smith LB, Thelen E. Development as a dynamic

system. Trends Cogn Sci 2003; 7: 343-8.

14. Tan M, Karaca S, Tan U. A new case of Uner Tan

syndrome – with late childhood

quadrupedalism. Mov Dis 2010; 25: 652-3.

15. Thelen E, Ulrich BD. Hidden skills: a dynamic

systems analysis of treadmill stepping

during the first year. Monogr Soc Res Child Dev

1991; 56: 1-98.

16. Cicchetti D, Curtis J. The developing brain and

neural plasticity: implications for

normality, psychopathology, and resilience. In:

Cicchetti D, Cohen DJ. Eds.

Developmental Psychopathology: Developmental

Neuroscience. Hoboken, New Jersey,

John Wiley & Sons, Inc. 2006, pp. 1-67.

17. Ozcelik T, Akarsu N, Uz E, et al. Mutations in the

very low density lipoprotein receptor

VLDLR cause cerebellar hypoplasia and

quadrupedal locomotion in humans. Proc Natl

Acad Sci USA 2008; 105: 4232-6.

18. Hayakawa Y, Itoh M, Yamada A, Mitsuda T,

Nakagawa T. Expression and localization of

Cayman ataxia-related protein, Caytaxin, is

regulated in a developmental- and

spatial-dependent manner. Brain Res 2007; 1129:

100-9.

19. Palau F, Espinos C. Autosomal recessive

cerebellar ataxias. Orphanet J Rare Dis 2006;

1:47 doi: 10.1186/1750-1172-1-47.

20. Prasun P, Pradhan M, Agarwal S. One gene,

many phenotypes. J Postgrad Med 2007; 53:

257-61.

21. Ewing B, green P. Analysis of expressed

sequence tags indicates 35,000 genes. Nat Genet

2000; 25: 232-4.

22. Bornholdt S, Rohl T. Self-organized critical neural

networks. Phys Rev E Stat Nonlin Soft

Matter Phys 2003; 67: 066118.

23. Skoyles JR. The paleoanthropological implications

of neural plasticity. CogPrints 2009;

http://cogprints.org/6357.

24. Kamm K, Thelen E, Jensen JL. A dynamical

systems approach to motor development.

Phys Ther 1991; 71: 763-75.

25. Garber KB. Editor’s corner: This month in genetics;

VLDLR receptor stands tall. Am J Hum

Gen 2008; 82:807.

26. Held LI. Quirks of Human Anatomy 2009;

Cambridge University Press: Cambridge.

27. Akpinar S. In restless legs syndrome, the neural

substrates of the sensorimotor

symptoms are also normally involved in upright

standing posture and bipedal walking.

Med Hypothesis 2009; 73: 169-76.

28. Ghika J. Paleoneurology: neurodegenerative

diseases are age-related diseases of specific

brain regions recently developed by homo sapiens.

Med Hypothesis 2008; 71: 788-801.

29. Le Fanu J. Why us? How science rediscovered the

mystery of ourselves. Panthoen Books,

2009, New York. Pp320.

30. Downey G. Human, Quadruped: Uner Tan

syndrome, part 1. Retrieved 2010/09/05, from

http://blogs.plos.org/neuroanthropology/2010/09/03/hu

man-quadruped-uner-tan-

Webmedcentral > Research articles Page 6 of 11

WMC00645 Downloaded from http://www.webmedcentral.com on 17-Sep-2010, 06:11:12 PM

syndrome-part-1/.

31. Downey G. 2 legs good, 4 legs better: Uner Tan

syndrome, part 2, Retrieved 2010/09/06,

from

http://blogs.plos.org/neuroanthropology/2010/09/05/2-l

egs-good-4-legs-betteruner-

tan-syndrome-part-2/.

32. Teotonio H, Rose MR. Perspective: reverse

evolution. Int J Org Evol 2001; 55:653-60.

33. Bailey KG. The concept of phylogenetic regression.

J Am Acad Psychoanal 1978; 6:5-35.

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