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Uner Tan Syndrome: History, Clinical Evaluations, Genetics, and the Dynamics of Human Quadrupedalism

Tan, Prof. Dr. Uner (2010) Uner Tan Syndrome: History, Clinical Evaluations, Genetics, and the Dynamics of Human Quadrupedalism. [Journal (Paginated)]

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Abstract

Abstract: This review includes for the first time a dynamical systems analysis of human quadrupedalism in Uner Tan syndrome, which is characterized by habitual quadrupedalism, impaired intelligence, and rudimentary speech. The first family was discovered in a small village near Iskenderun, and families were later found in Adana and two other small villages near Gaziantep and Canakkale. In all the affected individuals dynamic balance was impaired during upright walking,and they habitually preferred walking on all four extremities. MRI scans showed inferior cerebellovermian hypoplasia with slightly simplified cerebral gyri in three of the families, but appeared normal in the fourth. PET scans showed a decreased glucose metabolic activity in the cerebellum, vermis and, to a lesser extent the cerebral cortex, except for one patient, whose MRI scan also appeared to be normal. All four families had consanguineous marriages in their pedigrees, suggesting autosomal recessive transmission. The syndrome was genetically heterogeneous. Since the initial discoveries more cases have been found, and these exhibit facultative quadrupedal locomotion, and in one case, late childhood onset. It has been suggested that the human quadrupedalism may, at least, be a phenotypic example of reverse evolution. From the viewpoint of dynamic systems theory, it was concluded there may not be a single factor that predetermines human quadrupedalism in Uner Tan syndrome, but that it may involve self-organization, brain plasticity, and rewiring, from the many decentralized and local interactions among neuronal, genetic, and environmental subsystems.

Item Type:Journal (Paginated)
Keywords:Uner Tan syndrome, human quadrupedalism, intelligence, speech, systems theory, cerebellum, locomotion, balance, MRI, PET, self-organization, facultative quadrupedal locomotion, human.
Subjects:Neuroscience > Behavioral Neuroscience
Neuroscience > Brain Imaging
Neuroscience > Neurogenetics
Neuroscience > Neurology
Neuroscience > Neurophysiology
Neuroscience > Neuropsychology
Neuroscience > Neuropsychiatry
ID Code:6939
Deposited By: Tan, Prof. Dr. Uner
Deposited On:13 Sep 2010 03:59
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 sendromu ve insan ruhunun evrimine iliskin yeni bir teori. Biyobank 2005; No. 3 (15).

[2] Tan U. Unertan syndrome; quadrupedality, primitive language, and severe mental retardation; a new theory on the evolution of human mind. NeuroQuantology 2005; 4: 250-255.

[3] 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: 361-9.

[4] Smith LB, Thelen E. Development as a dynamic system. Trends Cogn Sci 2003; 7: 343-8.

[5] Tan U. Discovery of Unertan syndrome and reverse evolution: as an “Aha!” experience. NeuroQuantology 2008; 6: 80-3.

[6] Tan U. Evidence for “Unertan Syndrome” and the evolution of the human mind. Int J Neurosci 2006; 116: 763-74.

[7] Tan U. Evidence for “Unertan Syndrome” as a human model for reverse evolution. Int J Neurosci 2006; 116: 1539-47.

[8] Tan U, Pence S, Yilmaz M, et al. “Unertan Syndrome” in two Turkish families in relation to devolution and emergence of homo erectus: neurological examination, MRI, and PET scans. Int J Neurosci 2008; 118: 313-36.

[9] Tan U. Unertan Syndrome: review and report of four new cases. Int J Neurosci 2008; 118: 211-25.

[10] 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.

[11] Tan M, Karacas S, Tan U. A new case of uner tan syndrome—with late childhood quadrupedalism. Mov Dis 2010; 25: 652.

[12] De la Croix M. Phylogenie de la locomotion prebipéde de

l’homme. Rev Pathol Comp 1932; 22: 326.

[13] De la Croix M. The evolution of locomotion in mammals. J Mammal 1936; 17: 51-4.

[14] Kelly RE. Tripedal knuckle-walking: a proposal for the evolution of human locomotion and handedness. J Theor Biol 2001; 213: 333-58.

[15] Prost JH. The methodology of gait analysis and gaits of monkeys. Am J Phys Anthropol 1965; 23: 215-40.

[16] Parchman AJ, Reilly SM, Biknevicius AR. Whole-body mechanics and gaits in the gray short-tailed opossum monodelphis domestica: integrating patterns of locomotion in a semi-erect mammal. J Exp Biol 2003; 206: 1379-88.

[17] Rollinson J, Martin RD. Comparative aspects of primate locomotion with special reference to arboreal cercopithecines. Symp Zool Soc (Lond) 1981; 48: 377-427.

[18] Shapiro LJ, Raichien DA. Lateral sequence walking in infant papio cynocephalus: implications for the evolution of diagonal sequence walking in primates. Am J Phys Anthropol 2005; 126: 205-13.

[19] Sasaki O, Asawa S, Katsuno S, Usami S, Taguchi K. Gait initiation in bilateral vestibular loss. Auris Nasus Larynx 2001; 28: 295-99.

[20] Gramsbergen A. Postural control in man: the phylogenetic perspective. Neural Plast 2005; 12: 77-88.

[21] Tan U. Psychomotor theory: Mind-brain-body triad in health and disease In Sarbadhikari SH, Ed. Depression and dementia: Progress in Brain Research, clinical applications. Hauppauge, New York: Nova Science Publishers, Inc. 2005; pp. 21-53.

[22] 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.

[23] Muybridge E. The Human Figure in Motion. London: Chapman & Hall., Ltd. 1901.

[24] Universität Wien. Walking as Art. http://www.univie.ac.at/cga/art/

modern.html. Accessed 3 March 2010.

[25] Tan U, Karaca S, Tan M, Bagci NK, Ozkur A, Pence S. UnertanSyndrome: A case series demonstrating human devolution. Int J Neurosci 2008; 118: 1-25.

[26] Turkmen S, Demirhan O, Hoffmann K, et al. Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. J. Med Genet 2006; 43: 461-64.

[27] 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.

[28] Ozcelik T, Akarsu N, Uz E, et al. Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion. Proc Natl Acad Sci USA 2008; 105: E32-E33.

[29] Humphrey N, Mundlos S, Turkmen S. Genes and quadrupedal

locomotion in humans. Proc Natl Acad Sci USA 2008; 105: E26.

[30] Palau F, Espinos C. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 2006; 1:47 doi:10.1186/1750-1172-1-47.

[31] Maschke M, Oehlert G, Xie TD, et al. Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. Mov Dis 2005; 20: 1405-12.

[32] Boycott KM, Bonnemann C, Herz J, et al. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (disequilibrium syndrome). J Child Neurol 2009; 24: 1310-5.

[33] Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 2003; 12: R89-R96.

[34] Prasun P, Pradhan M, Agarwal S. One gene, many phenotypes. J Postgrad Med 2007; 53: 257-61.

[35] Garber KB. Editor’s corner: This month in genetics; VLDLR receptor stands tall. Am J Hum Genet 2008; 82: 807.

[36] Ewing B, Green P. Analysis of expressed sequence tags indicates 35,000 genes. Nat Genet 2000; 25: 232-4.

[37] Bornholdt S, Rohl T. Self-organized critical neural networks. Phys Rev E Stat Nonlin Soft Matter Phys 2003; 67: (6Pt 2): 066118.

[38] Skoyles JR. The paleoanthropological implications of neural plasticity. CogPrints 2009;http://cogprints.org/6357.

[39] 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.

[40] Hostetler J. History and relevance of the Hutterite population for genetic studies. Am J Med Genet 1985; 22: 453-62.

[41] Glass HC, Boycott KM, Adams C, et al. Autosomal recessive cerebellar hypoplasia in the Hutterite population. Dev Med Child Neurol 2005; 47: 691-95.

[42] Boycott KM, Flavelle S, Bureau A, et al. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 2005; 77: 477-83.

[43] Moheb LA, Tzschach A, Garshasbi M, et al. Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Eur J Hum Genet 2008; 16: 270-3.

[44] Valente EM, Salpietro DC, Brancati F, et al. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet 2003; 73: 663-70.

[45] Fink JK, Hedera P. Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation. Semin Neurol 1999; 19: 301-9.

[46] Jen JC, Lee H, Cha YH, Nelson SF, Baloh RW. Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia. Neurology 2006; 67: 1704-6

[47] Pallister P, Opitz J. Disequilibrium syndrome in Montana Hutterites.Am J Med Genet 1986; 22: 567-9.

[48] Steinlin M, Zangger B, Boltshauser E. Non-progressive congenital ataxia with or without cerebellar hypoplasia : a review of 34 subjects. Dev Med Child Neurol 1998; 40: 148-54.

[49] Sarnat HB. Molecular genetic classification of central nervous system malformations. J Child Neurol 2000; 15: 675-87.

[50] Stockinger W, Brandes C, Fasching D, et al. The reelin receptor ApoER2 recruits JNK-interacting proteins-1 and -2. J Biol Chem 2000; 275: 25625-32.

[51] Bar I, Lambert de Rouvroit C, Goffnet AM. The evolution of cortical development. An hypothesis based on the role of the reelin signaling pathway. Trends Neurosci 2000; 23: 633-8.

[52] Krenz JG, Naylor GJP, Shaffer HB, Janzen FJ. Molecular phylogenetics and evolution of turtles. Mol Phylogenet Evol 2005; 37: 178-91.

[53] Tissir F, de Rouvroit CL, Goffnet AM. The role of reelin in the development and evolution of the cerebral cortex. Braz J Med Biol Res 2002; 35: 1473-84.

[54] Raj A, van Qudenaarden A. Nature, nuture, or chance: stochastic gene expression and its consequences. Cell 2008; 135: 216-26.

[55] Reilly SM, McElroy EJ, Odum RA, Hornyak VA. Tuataras and salamanders show that walking and running mechanics are ancient features of tetrapod locomotion. Proc R Soc B 2006; 273: 1563-8.

[56] Potts R. Enviromental hypothesis of hominin evolution. Yearb Phys Anthropol 1998; 41: 93-136.

[57] Wannier T, Bastiaanse C, Colombo G, Dietz V. Arm to leg coordination in humans during walking, creeping and swimming activities. Exp Brain Res 2001; 141: 375-9.

[58] Falgairolle M, de Seze M, Juvin L, Morin D, Cazalets JR. Coordinated network functioning in the spinal cord: an evolutionary perspective. J Physiol (Paris) 2006; 100: 304-16.

[59] Lacquaniti F, Grasso R, Zago M. Motor patterns in walking. News Physiol Sci 1999; 14: 168-74.

[60] Thorstensson A, Carlson H, Zomlefer R, Nilsson J. Lumbar back muscle activity in relation to trunk movements during locomotion in man. Acta Physiol Scand 1982; 116: 13-20.

[61] Thorstensson A, Nilsson J, Carlson H, Zomlefer MR. Trunck movements in human locomotion. Acta Physiol Scand 1984; 121: 9-22.

[62] Hooper SL. Central pattern generators. Curr Biol 2000; 10: R176.

[63] Hiebert A, Jonckheere E, Lohsoonthorn P, Mahajan V, Musuvathy S, Stefanovic M. Visualization of a stationary CPG-revealing spinal wave. Stud Health Technol Inform 2006; 119: 198-200.

[64] Dietz V. Do human bipeds use quadrupedal coordination? Trends Neurosci 2002; 25: 462-7.

[65] Grillner S. From egg to action. Brain Res Bull 2000; 53: 473-7.

[66] Shapiro LJ, Jungers WL. Electromyography of back muscles during quadrupedal and bipedal walking in primates. Am J Phys Anthropol 1994; 93: 491-504.

[67] Haken H. Self organization. Scholarpedia 2008; 3: 1401.

[68] Heriza CB. Implications of a dynamical systems approach to understanding infant kicking behavior. Phys Ther 1991; 71: 222-35.

[69] Thelen E, Kelso JAS, Fogel A. Self-organizing systems and infant motor development. Dev Rev 1987; 7: 39-65.

[70] Kamm K, Thelen E, Jensen JL. A dynamical systems approach to motor development. Phys Ther 1991; 71: 763-75.

[71] 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.

[72] 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.

[73] Murre J. Plasticity and evolution. Courses 2001-01-12.

http://www.neuromod.org/courses/ecba1999/. Accessed 3 Marc

2010.

[74] Ghika J. Paleoneurology: neurodegenerative diseases are agerelated diseases of Specific brain regions recently developed by homo sapiens. Med Hypotheses 2008; 71: 788-801.

[75] Bailey KG. The concept of phylogenetic regression. J Am Acad Psychoanal 1978; 6: 5-35.

[76] Rapoport SI. Hypothesis: Alzheimer’s disease is a phyllogenetic disease. Med Hypotheses 1989; 29: 147-150.

[77] Brown JW. The life of the mind. Hillsdale, New Jersey Hove and London, Lawrence Erlbaum Associates 1998.

[78] Akpinar S. In restless legs syndrome, the neural substrates of the sensorimotor symptoms are also normally involved in upright standing posture and biped walking. Med Hypotheses 2009; 73:169-76.

[79] Teotonio H, Rose MR. Perspective: Reverse evolution. Int J Org Evol 2001; 55: 653–60.

[80] Bull JJ, Déja vu. Nature 2000; 408: 416-17.

[81] Teotonio H, Rose MR. Variation in the reversibility of evolution. Nature 2000; 408: 463–66.

[82] Teotonio H, Rose MR. Reverse evolution of fitness in Drosophila melanogaster. J Evol Biol 2002; 15: 608–17.

[83] Porter ML, Crandall KA. Lost along the way: The significance of evolution in reverse. Trends Ecol Evol 2003; 18: 541–7.

[84] Bekpen C, Marques-Bonet T, Alkan C, et al. Death and resurrection of the human IRGM gene. PLoS Genet 2009; 5: e1000403.

[85] Harris MP, Hasso SM, Ferguson MW, Fallon JF. The development of Archosaurian first-generation teeth in a chicken mutant. Curr Biol 2006; 21: 371-7.

[86] Lewis EB. Gene complex controlling segmentation in Drosophila. Nature 1978; 276: 565-70.

[87] Tvrdik P, Capecchi MR. Reversal of Hox1 gene subfunctionilazation in the mouse. Dev Cell 2006; 11: 239-50.

[88] Filler A. Redefining the word “Human” – Do Some Apes Have Human Ancestors? 24 http://blog.oup.com/2007/12/human/). Accessed

3 March 2010.

[89] Bridgham JT, Ortlund EA, Thornton JW. An epistatic ratchet constrains the direction of glucocorticoid receptor evolution. Nature 2009; 461: 515-9. Received: April 03, 2010 Revised

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