UNERTAN SYNDROME: A CASE SERIES DEMONSTRTAING 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 intra-familial marriages suggested that the UTS is an autosomal recessive disorder. 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, answering them 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 (DES). 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. 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. Since 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

Unertan syndrome in two Turkish families in relation to devolution and emergence of homo erectus: Neurological examination, MRI, and PET scans

WOS: 000253720600001PubMed ID: 18300005Unertan syndrome consists of two main symptoms: quadrupedal gait and primitive cognitive abilities including language and conscious experience. To assess the central mechanisms involved in this syndrome, the authors performed MRI and PET scans on affected and unaffected individuals from both families. All affected individuals were also subjected to neurological examination. To assess the integrity of the peripheral and central vestibular system, Barany's caloric test was applied to the affected individuals. Brain MRI and PET scans were performed on normal subjects (n = 7) and patients (n = 7). Right- and leff-cerebral and cerebellar areas, including the vermial and callosal areas, were measured on the MRI scans using a computer cursor. Quadrupedal gait, mental retardation, dysartric speech, nystagmus, severe truncal ataxia, hyperreflexia, astasia, and abasia were observed in the affected individuals from both families. Cerebellum and vermis were atrophic in the MRI and PET scans of the first family. In contrast, the brain MRI seemed to be normal in the MRI and PET scans of affected individuals from the second family. The caloric test revealed central vestibular damage in patients from the first family and peripheral vestibular damage in patients from the second family. The results suggest that "Unertan syndrome," discovered in two unrelated families, may be caused by peripheral or central vestibular damage resulting from different genetic defects. Cerebellar hypoplasia may not be a prerequisite for the emergence of this syndrome. Primitive mental abilities may be explained by damage within the vestibulo-cerebellar system, whereas the quadrupedal gait may be due to a genetic defect within the higher brain centers that suppress the atavistic brain networks controlling quadrupedal gait and helped in the emergence of the habitual bipedal gait during human evolution. This retarded development of human locomotion-devolution-may illuminate the brain mechanisms responsible for the transition from quadrupedality to bipedality in human evolution

"Unertan syndrome" in two Turkish families in relation to devolution and emergence of homo erectus: Neurological examination, MRI, and PET scans

"Unertan syndrome" consists of two main symptoms: quadrupedal gait and primitive cognitive abilities including language and conscious experience. To assess the central mechanisms involved in this syndrome, the authors performed MRI and PET scans on affected and unaffected individuals from both families. All affected individuals were also subjected to neurological examination. To assess the integrity of the peripheral and central vestibular system, Barany's caloric test was applied to the affected individuals. Brain MRI and PET scans were performed on normal subjects (n = 7) and patients (n = 7). Right- and leff-cerebral and cerebellar areas, including the vermial and callosal areas, were measured on the MRI scans using a computer cursor. Quadrupedal gait, mental retardation, dysartric speech, nystagmus, severe truncal ataxia, hyperreflexia, astasia, and abasia were observed in the affected individuals from both families. Cerebellum and vermis were atrophic in the MRI and PET scans of the first family. In contrast, the brain MRI seemed to be normal in the MRI and PET scans of affected individuals from the second family. The caloric test revealed central vestibular damage in patients from the first family and peripheral vestibular damage in patients from the second family. The results suggest that "Unertan syndrome," discovered in two unrelated families, may be caused by peripheral or central vestibular damage resulting from different genetic defects. Cerebellar hypoplasia may not be a prerequisite for the emergence of this syndrome. Primitive mental abilities may be explained by damage within the vestibulo-cerebellar system, whereas the quadrupedal gait may be due to a genetic defect within the higher brain centers that suppress the atavistic brain networks controlling quadrupedal gait and helped in the emergence of the habitual bipedal gait during human evolution. This retarded development of human locomotion-devolution-may illuminate the brain mechanisms responsible for the transition from quadrupedality to bipedality in human evolution

Investigation of MMP-9 rs3918242 and TIMP-2 rs8179090 polymorphisms in renal cell carcinoma tissues

Background: The proteolytic activities of matrix metalloproteinases (MMP), cell surface enzymes degrading extracellular matrix, is inhibited by matrix metalloproteinase tissue inhibitors (TIMP). We aim to detect the effects of MMP-9 rs3918242 and TIMP-2 rs8179090 gene variations in renal cell cancer transformation

Analysis of the BACE1 and Clusterin Genes Expression Levels in Alzheimer's Disease

Objective: This study aimed to explore the mRNA expressions of the beta-site amyloid precursor protein-cleaving enzyme 1 (BACE1) and clusterin (CLU) genes in blood samples of patients with Alzheimer's disease (AD) and healthy subjects

The expression levels of miR-655-3p, miR127-5p, miR-369-3p, miR-544a in gastric cancer

Background: Gastric cancer, one of the most common cancers in the world, is a multifactorial disease in which environmental and genetic factors play a role. In our study, we aimed to determine the expression levels of four miRNAs (miR127-5p, miR-544a, miR-369-3p and miR-655-3p) on chromosome 14q32 in gastric cancer

MTHFR C677T and A1298C Gene Polymorphisms in Human Kidney Cancer Tissues

Introduction: The potential effect of 5,10-methylenetetrahydrofolate reductase (MTHFR) on DNA methylation, DNA repair and DNA synthesis has made MTHFR a cancer-inducing gene. In this study, we aimed to evaluate C677T and A1298C gene polymorphisms in kidney cancer

Investigation of JAM-A (rs790056) and LFA-1 (rs8058823) gene variants in Turkish colorectal cancer patients

Background/Aims: Lymphocyte function-associated antigen 1 (LFA-1) is a transmembrane glycoprotein expressed on the surface of leukocytes and containing the binding domain for junctional adhesion molecule-A (JAM-A). The aim of the present study was to evaluate the effects of JAM-A and LFA-1 variants on the formation of colorectal cancer and metastasis