Sex differences in quadrupedal walking gaits of Uner Tan syndrome cases, healthy humans and nonhuman primates.

Background: Uner Tan syndrome (UTS) cases with habitual quadrupedal locomotion (QL), impaired intelligence, and dysarthric or no speech predominantly use lateral sequence (LS) gait like nonprimates rather than the predominantly diagonal sequence (DS) gait of nonhuman primates. However, these studies neglected possible sex-related differences in these gait types.

Objectives: (1) To assess the possible sex-related gait types in UTS cases, healthy infants and adults with requested QL, and the nonhuman primates.

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.

The integrity and dynamic properties of the microtubule cytoskeleton are indispensable for the development of the mammalian brain. Consequently, mutations in the genes that encode the structural component (the α/β-tubulin heterodimer) can give rise to severe, sporadic neurodevelopmental disorders. These are commonly referred to as the tubulinopathies.

Siblings in Kars, Turkey, with Uner Tan syndrome (quadrupedal locomotion, severe mental retardation, and no speech): a novel theory for the evolution of human bipedalism.

Objective: To investigate siblings from Kars (n  =  2), Turkey, with diagonal-sequence quadrupedal locomotion (QL), severe mental retardation, and no speech (Uner Tan syndrome, UTS), in relation to the evolutionary emergence of human bipedal locomotion (BL).

Methods: Video recordings were made to assess gaits. Brain MRI scanning was performed to visualize the cerebro-cerebellar malformations.

Two families with quadrupedalism, mental retardation, no speech, and infantile hypotonia (Uner Tan Syndrome Type-II); a novel theory for the evolutionary emergence of human bipedalism.

Two consanguineous families with Uner Tan Syndrome (UTS) were analyzed in relation to self-organizing processes in complex systems, and the evolutionary emergence of human bipedalism. The cases had the key symptoms of previously reported cases of UTS, such as quadrupedalism, mental retardation, and dysarthric or no speech, but the new cases also exhibited infantile hypotonia and are designated UTS Type-II. There were 10 siblings in Branch I and 12 siblings in Branch II.

Clinical, Neurocognitive, Structural Imaging and Dermatogliphics in Schizophrenia According to Kraepelin Criteria.

Introduction: A century ago, Kraepelin stated that the distinctive feature of schizophrenia was progressive deterioration. Kraepelin criteria for schizophrenia are: (1) continuous hospitalization or complete dependence on others for obtaining basic necessities of life, (2) unemployment and (3) no remission for the past five years. We aimed to determine the clinical appearance and structural biological features of Kraepelinian schizophrenia.

Human quadrupedalism is not an epiphenomenon caused by neurodevelopmental malformation and ataxia.

Two cases with quadrupedal locomotion (QL) were presented. In both cases, cognitive and psychiatric functions were normal and, no neurological deficits were observed, except for a sequel paralysis of left leg in Case 2. It was suggested that human QL (1) should not be considered as an epiphenomenon caused by neurodevelopmental malformation and ataxia, but (2) may be considered as a re-emergence of the ancestral diagonal QL, and (3) it may spontaneously emerge in humans with entirely normal brains, by taking advantage of neural networks such as central pattern generators that have been preserved for about 400 million years.

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.

Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity mapping revealed that several shared homozygous regions, including chromosome 13q12.

Lateralized α-motoneuron excitabilities during lying and standing of healthy individuals in relation to parkinsonian rigidity.

Objectives: To elucidate mechanisms of Parkinsonian rigidity by assessing excitability of alpha-motoneurons innervating right and left soleus muscles in healthy controls and Parkinson's disease (PD) patients with rigidities in the right, left and both legs.

Methods: One group of 45 controls was recruited and 60 PD patients in three groups: rigidities, predominantly in the right, left and both legs. H-reflex (H) and muscle response (M) were recorded from right and left soleus muscles during stimulations of the posterior tibial nerve at the popliteal fossa while lying and standing.

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely rare phenotype associated with quadrupedal locomotion, mental retardation, and cerebro-cerebellar hypoplasia, linked to a 7.1-Mb region of homozygosity on chromosome 17p13.

Uner tan syndrome: history, clinical evaluations, genetics, and the dynamics of human quadrupedalism.

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.

Unertan syndrome: a new variant of Unertan syndrome: running on all fours in two upright-walking children.

A new variant of Unertan Syndrome (UTS) is described in two Turkish children who exhibit both bipedal and quadrupedal locomotion and have normal cognitive abilities, including speech and intelligence. Quadrupedal locomotion was used by these individuals for rapid motivity when needed. An X-linked autosomal recessive transmission appears to be responsible for the UTS trait, with no intrafamilial marriages.

Antiepileptogenic effects of glutathione against increased brain ADA in PTZ-induced epilepsy.

Adenosine has been shown to play a significant role as a modulator of neuronal activity in convulsive disorders, acting as an endogenous anticonvulsant agent. Any change in adenosine deaminase (ADA) levels will reflect to adenosine levels. In the present study, we have investigated the effect of glutathione on brain tissue ADA levels due to seizures induced by convulsive and subconvulsive dose of pentylenetetrazol (PTZ) in mice.

Effects of progesterone on total brain tissue adenosine deaminase activity in experimental epilepsy.

Single seizure and epilepsy is one of the most commonly encountered neurologic disorders in elderly individuals, arising as a result of complex and often multiple acquired underlying pathologies. Adenosine, acting at A1 receptors, exhibits anticonvulsant effects in experimental epilepsy and inhibits progression to status epilepticus. Adenosine deaminase is the enzyme for the regulation of adenosine levels.

Ratio of fourth to second fingertip extensions in relation to serum estradiol and testosterone levels in men and women.

Sex differences in second (2D) and fourth (4D) fingertip extensions relative to the middle fingertip and 4D:2D fingertip extension ratios were studied in men and women. Body height positively correlated with index fingertip extensions, not with ring fingertip extensions, nor with their ratio. Mean 2D extension (both hands) was smaller in women than men; mean 4D extension (right hand) was smaller in men than women; 4D:2D fingertip extension ratios from both hands were larger in women than men.

Right brain is important for students' achievements in science.

Relations between the hearing durations of right and left ears and points on the introductory examination for entrance to the Science School of Ataturk University in Erzurum were investigated in 31 male and 13 female students. The hearing duration of the left ear was significantly associated with the scores of the examination for the university entrance, the hearing duration for the right ear being not significantly related to the examination scores. The results suggest that the right brain would be beneficial for the students' achievements in science.

Association of height and weight with second to fourth digit ratio (2D:4D) and sex differences.

Sex difference in 2D:46 digit ratio was studied in 386 right-handed students. The lengths of index (2D) and ring (4D) fingers were measured using a caliper. Height and weight of participants were recorded.

A special case of anencephaly in an early-born baby with an exagerated prognastic face: further example for human devolution.

A 7-month-old baby was born in a village near Iskenderun (Turkey) where "Unertan Syndrome" with quadrupedality and primitive cognitive abilities was discovered. The clinical diagnosis was anencephaly. However, his head did not show the classical symptoms of anencephaly because it was covered with bony structures.

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.

Quadrupedal gait in humans, also known as Unertan syndrome, is a rare phenotype associated with dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar hypoplasia. Four large consanguineous kindreds from Turkey manifest this phenotype. In two families (A and D), shared homozygosity among affected relatives mapped the trait to a 1.

Dynamics of manual skill: a computerized analysis of single peg movements and stochastic resonance hypothesis of cerebral laterality.

Hand skill was analyzed using a computerized peg moving task. The durations of single hand movements (PMTs) were accurately measured in right-hand (RH) and left-hand (LH) writers. One trial consisted of 10 movements of the right hand and 10 movements of the left hand.

Correlations between eye-hand reaction time and power of various muscles in badminton players.

In the present study, the relations of simple reaction times of right and left hands with muscle powers of right and left hands, back, and leg were examined. Hand preference was assessed by the modified Edinburgh Handedness Inventory. Measurements for reaction time were taken using the Newtest 2000 Reaction Time Apparatus.

"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.

Unertan syndrome: review and report of four new cases.

The aim of this study was to describe additional patients (n= 3) exhibiting the Unertan syndrome (UTS), resident in rural areas of Canakkale. The 8th and 9th families with the UTS, with a total of 16 members affected, have not been previously characterized. A single, non-familial case (Bayramic, Canakkale) occurred during early childhood after an infection with a high fever.

The effect of progesterone on total brain tissue sialic acid levels in experimental epilepsy.

Epilepsy, the most common neurological disorder worldwide, changing cellular interactions and connectivity may have effects on sialic acid levels. A total of 80 mice were separated into 8 groups: the sham, control, pentylentetrazole (PTZ), PTZ plus progesterone, five dose progesterone, single dose progesterone, kindling, and kindling plus progesterone groups. Brains of each mice were extracted and were divided into five parts.