Co-Variations among Cognition, Cerebellar Disorders and Cortical Areas--论文代写范文精选

  结果建议不仅可以测试小脑疾病,还可能测量整体大脑的活动，产生的精神运动障碍与降低脑代谢有关。蔡尔兹(1917)所描述的这种情况,第一次描述新颖的综合症,智力障碍,和言论受损，伴随着躯干的共济失调。下面的paper代写范文进行详述。

  ABSTRACT 
  Patients with Uner Tan syndrome (UTS) exhibit habitual quadrupedal locomotion (QL), intellectual disability, dysarthric speech and truncal ataxia. Examination of cognitive ability in this syndrome has not yet been demonstrated in the scientific literature. Aims: (i) To analyze the cognitive abilities of the siblings with UTS; (ii) to assess the grade of their ataxia in relation to cerebellar disorders; (iii) to measure the metabolic activities of various cerebral regions in comparison with healthy individuals; (iv) to detect the interrelationships among all of the measured variables (IQ test scores, ataxia scores, cerebro-cerebellar areas and their metabolic activity levels) to reveal the holistic activity of the brain. The Minimental State Examination (MMSE) and Wechsler Adult Intelligence Scale (WAIS-R) were applied to the affected cases and healthy subjects. Cerebellar disorders were assessed by the International Cooperative Ataxia Rating Scale (ICARS). 

  Brain MRI scans were performed and cerebro-cerebellar areas were measured on MRI scans, including their metabolic activities (SUV), measured by positron emission tomography (PET) scanning. MMSE and WAIS-R scores both correlated with cerebro-cerebellar areas. Cerebello-vermial areas and their metabolic activities were significantly smaller in patients than in normal controls; areas of the remaining structures were not significantly different between patients and healthy subjects. Brain areas significantly inter-correlated: ICARS negatively correlated with WAIS-R, MMSE scores, SUV, and cerebro-cerebellar areas, which significantly correlated with each other. The results suggested (i) ICARS may not only be a test for cerebellar disorders, but also may be related to global functioning of all of the cerebro-cerebellar regions; (ii) ICARS, WAIS-R and MMSE may be measures of emergent properties of the holistic activity of the brain; (iii) the psychomotor disorders in UTS may be related to decreased brain metabolism. 
Key Words: Uner Tan syndrome, ataxia, intelligence, neural network, holistic brain

  Introduction1 
  In 1917, W. J. Childs described in his book “Across Asia Minor on Foot” a man who walked on all fours. Childs (1917) described this case (p. 29) as follows: “He went on all fours and showed a number of antics, imitating a dog and goat and other animals to admiration. Then I saw he was without thighs; that the knee-joint was at the hip, the leg rigid, and only half the usual length.” About 100 years later, Tan first described six siblings who presented a novel syndrome with habitual QL, intellectual disability, and impaired speech accompanied by truncal ataxia (Tan, 2005). Among cerebellar ataxias, this is a unique syndrome with substantial differences from other balance disorders such as dysequilibrium syndrome (DSE), Cayman ataxia, and Joubert Syndome (Tan, 2010).

  Guertin (2012) emphasized the uniqueness of UTS as a “recently identified and uniquely different neurological disorder, called Uner Tan syndrome.” This syndrome showed genetic heterogeneity: nonsense mutations were found in the WDR81 gene in the the patients of the Iskenderun family (Gulsuner, 2011), presented in this work, the VLDLR gene was affected in the Gaziantep and Canakkale families (Ozcelik et al., 2008), and the ATP8A2 gene in the Adana family (Onat et al., 2012), suggesting no single gene was responsible for the emergence of this syndrome. Considering the brain function in human beings, the neural control systems consist of two major controls: inside-out (from bottom to top) and outside-in (from top to bottom). The outside-in concept is a holistic approach consistent with the idea that an entity’s properties or behaviors are more than the sum of its parts. Aristotle (384-322BC) concisely summarized this holism: “the whole is more than the sum of its parts.” The noted scientist with important original contributions to holism in motor control was the Russian physiologist Nikolai Bernstein (1896-1966) (Stuart, 2005), who considered movement as a holistic action, which cannot be produced in isolation (Thelen & Smith, 1994).

  Contemporary scientific thinking assumes that cognitive functions may result from an orchestrated activity of multiple cortical regions. In this context, Deacon (1989) stated “mental activities are processes of the whole brain… mental events cannot be localized into specific structures (anti-localizationism).” It was also reported that the regions of the cerebral cortex might be functionally coupled with each other (Fox et al., 2006). There is also evidence that functional and structural networks within the brain may be closely associated with each other (Zemanova et al., 2006); “many cognitive disorders are associated with the localized or global failure of brain networks” (Sporns, 2011). In this context, the cognitive functioning in UTS cases was never analyzed in detail. Intellectual disability, one of the main symptoms of UTS, was previously reported, but only using the MMSE test (Tan et al., 2012), which superficially assesses the cognitive ability of patients in clinical sessions. A more comprehensive IQ test to gain more accurate information about their cognitive abilities, such as WAIS-R, was never applied to UTS cases. 

  On the other hand, another major symptom, ataxia, was assessed only by inspection, without using an internationally recognized ataxia scale such as ICARS. MRI and PET scans were also previously performed and compared with healthy subjects (Tan et al., 2008), but without studying their quantitative relations to ataxia and cognition. In light of the above considerations, the present work was aimed (i) to examine the cognitive abilities of the UTS cases in detail using WAIS-R and MMSE, (ii) to analyze the cerebellar ataxia disorders quantitatively using ICARS, and (iii) to analyze the interrelationships between ICARS, WAIS-R, MMSE and cerebro-cerebellar regions and their metabolic activities, to have an idea about the origins of the UTS in relation to a possible holistic functioning of the brain. In this context, the interconnectedness among the levels of cognitive abilities, ataxia scores, cerebrocerebellar areas and their regional metabolic activities were subjected to correlation analysis in light of the complex systems theory with regard to holistic brain functions.(paper代写)

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