Les ataxies spastiques héréditaires forment une famille hétérogène de désordres qui ont des points communs avec les ataxies héréditaires et les paraplégies spastiques héréditaires. Un de ces éléments est une ataxie, soit une difficulté de coordination des membres souvent due à un dommage au cervelet. L’autre est une spasticité des membres inférieurs, souvent due à des dommages à la voie cortico-spinale. Une seule ataxie spastique à hérédité autosomique dominante a été rapportée dans la littérature, et il s’agit de SPAX1. À l’aide de trois familles de Terre-Neuve présentant ce phénotype, le locus a été identifié en 2002. Dans ce mémoire, c’est de la découverte du gène causal dont il est question. La mutation a été trouvée dans le gène VAMP1, qui encode la protéine synaptobrévine 1, une protéine synaptique impliquée dans l’exocytose des neurotransmetteurs. Il est aussi question de la caractérisation fonctionnelle de la mutation sur l’ARN et des conséquences possibles sur la protéine, concordant avec les symptômes de la maladie. / Hereditary spastic ataxias comprise a family of heterogeneous disorders resembling both hereditary ataxias and hereditary spastic paraplegias. The similar symptoms are ataxia, which is a problem with limb coordination due to cerebellar damage, and lower-limb spasticity due to corticospinal tract degeneration. Only one spastic ataxia inherited in an autosomal dominant fashion has been reported in the literature: SPAX1. The locus was identified in 2002 using three families from Newfoundland with the specific phenotype. This thesis reports the discovery of the causative mutation in the VAMP1 gene, which encodes VAMP1/synaptobrevin 1, a synaptic protein involved in neurotransmitter exocytosis. Experiments characterizing the effect of the mutation on RNA were conducted, leading to a possible molecular explanation of the symptoms.

Master's thesis topic: Effects of the training with the krankcycle on wheelchair users Author: Bc. Ondřej Doubrava Branch of study: Physiotherapy Disertation Tutor: Mgr. Rostislav Čichoň, Ph.D. Year of Defense: 2014 This work was focused on training and strengthening of wheelchair users as a prevention of their health problems, a regulation of wrong physical and physiological mechanisms and an increase their fitness and motional skills. In this training the new instrument designed to strengthen the upper extremity and to improve the function of the cardiorespiratory system was used. This device is called krankcycle and its popularity has increased dramatically especially in the recent years. Therefore it became the main purpose of this work to determine whether completing a 12-week continuous training with krankcycle will lead to changes in monitored parameters evaluating physiological, physical and motional skills of subjects and thus identify the true value of its use. At the same time, we wanted to verify previously confirmed advantages and effectiveness of this exercise especifically for wheelchair users and reveal the krankcycle to them and the wider public as well. Values of body composition were measured in the biomedical laboratory of the UK FTVS by caliperation of four skinfolds method on...

Title: The influence of dance training on mood and feelings of people with paraplegia Objectives: The objective of this work was to detect using POMS questionnaire, whether the dance education has a positive effect on mood of people with paraplegia. Specifically, we focused on feelings such as depression, activity, anxiety and fatigue. Methods: The survey is a quantitative type using the POMS questionnaire (Profile of Mood State). Research has become a set of 40 people with paraplegia. 20 people were the control group and 20 persons were experimental group. Results: Dance education has significantly reduce the feeling of depression, anxiety, fatigue, and increase activity in patients with paraplegia. Dance in our case, show better results than any other sporting activity. Keywords: Dance education, paraplegia, mood, feelings, emotions, sports, music, adapted physical activities

Les ataxies spastiques héréditaires forment une famille hétérogène de désordres qui ont des points communs avec les ataxies héréditaires et les paraplégies spastiques héréditaires. Un de ces éléments est une ataxie, soit une difficulté de coordination des membres souvent due à un dommage au cervelet. L’autre est une spasticité des membres inférieurs, souvent due à des dommages à la voie cortico-spinale. Une seule ataxie spastique à hérédité autosomique dominante a été rapportée dans la littérature, et il s’agit de SPAX1. À l’aide de trois familles de Terre-Neuve présentant ce phénotype, le locus a été identifié en 2002. Dans ce mémoire, c’est de la découverte du gène causal dont il est question. La mutation a été trouvée dans le gène VAMP1, qui encode la protéine synaptobrévine 1, une protéine synaptique impliquée dans l’exocytose des neurotransmetteurs. Il est aussi question de la caractérisation fonctionnelle de la mutation sur l’ARN et des conséquences possibles sur la protéine, concordant avec les symptômes de la maladie. / Hereditary spastic ataxias comprise a family of heterogeneous disorders resembling both hereditary ataxias and hereditary spastic paraplegias. The similar symptoms are ataxia, which is a problem with limb coordination due to cerebellar damage, and lower-limb spasticity due to corticospinal tract degeneration. Only one spastic ataxia inherited in an autosomal dominant fashion has been reported in the literature: SPAX1. The locus was identified in 2002 using three families from Newfoundland with the specific phenotype. This thesis reports the discovery of the causative mutation in the VAMP1 gene, which encodes VAMP1/synaptobrevin 1, a synaptic protein involved in neurotransmitter exocytosis. Experiments characterizing the effect of the mutation on RNA were conducted, leading to a possible molecular explanation of the symptoms.

No description available.

The Diploma Thesis deals with paraplegics free time and their integration into the intact society free time activities. Theoretical part characterizes paraplegia and its variations. Furthermore it describes the care/help/support system provided for paraplegics. Last but not least it deals with free time, its quality and the quality change after spinal cord injury. Practical part contains evaluation of two researches focused on free time use of paraplegics.

This master's thesis deal with the ability to maintain trunk stability in paraplegic patients in the relation to the functional skills of upper extremity. Its aim is to determine the extent to which posture influences grip strength in these persons. It consists of two parts. The first part includes introduction of the spinal cord injury and findings of the mechanisms and functional significance of the torso in relation to posture and everyday activities. Further, it presents the possibilities of utilization and different ways of measurement of grip strength in clinical practice. In the second part, the results of the measurement of grip strength in paraplegic persons in three different positions - lying on the back and in two different sitting positions - are analyzed. The measurements were undertaken using a dynamometer. It was measured twice, always after one week period. All patients attend the standard therapy provided by the Spinal Unit in the University Hospital in Motol, where they have been also hospitalized in that time. The results refer to certain dependency of gripstrength of upper extremity to posture in paraplegic persons. This was proved within the comparison of values from sitting position with back support and without back support. In the first named position were reached higher...

Les ataxies (HCA) et paraparésies spastiques héréditaires constituent les deux extrémités du spectre des entités neurodégénératives spinocérébelleuses (SCE). Elles sont marquées par une forte hétérogénéité clinique, avec des signes associés variés, et génétique. Elles peuvent se transmettre sur tous les modes d'hérédité, et des mutations ont été décrites dans une myriade de gènes. Les SCE sont donc une entité qui bénéficie particulièrement des avancées technologiques de la Nouvelle Génération de Séquençage. Ce travail décrit des résultats obtenus sur de grandes cohortes, par séquençage de panel de gènes ciblés ou de l'exome entier, ainsi que des études de familles. Celles-ci nous ont permis de décrire de nouveaux modes de transmission de mutations dans des gènes déjà connus en pathologie humaine, avec un dans un cas une dysfonction similaire, dans l'autre un gain versus une perte de fonction. Nous rapportons aussi deux gènes nouvellement impliqués, dans une forme autosomique dominante de HCA (CACNA1A), et dans un sous-type autosomique récessif de dystonie avec atrophie cérébelleuse (TOR1AIP1). Nos résultats illustrent bien la refonte nosologique en marche dans les maladies génétiques complexes, qui remettent en permanence les corrélations génotype-phénotype en question. Nous discutons du pourquoi et du comment du diagnostic moléculaire dans cette nouvelle ère du séquençage. / Hereditary cerebellar ataxias (HCA) and spastic paraplegias constitute both ends of the neurodegenerative spectrum of spinocerebellar entities (SCE). Theses diseases are marked by a pronounced heterogeneity, both clinically, with various additional neurological or extraneurological signs, and genetically. They can indeed follow all transmission modes, and mutations in a myriad of genes have been described. SCE is hence a group of diseases that benefit greatly from Next-Generation Sequencing technologies. This work reports both screenings of large cohorts of patients with either panel or whole exome sequencing, as well as family studies. The latter allowed us to describe new modes of transmission for genes previously involved in human pathology, with either similar protein dysfunction, or loss- versus gain-of-function. We also describe two new genes implicated in a form of autosomal dominant HCA (CACNA1A), and an autosomal recessive subtype of dystonia and cerebellar atrophy (TOR1AIP1). Our results are illustrative of the genetic remodelling underway in complex genetic diseases, with permanent questioning of genotype-phenotype correlations. We discuss the how and the why of molecular diagnosis in this new era of sequencing.

The purpose of this study was to explore the psychosocial problems encountered by Black patients with tetralpegia once discharged from the hospital. Phenomenology as a research strategy was used with the aim of understanding the worldview of patients. The medical aspects of spinal cord injury were discussed, firstly with emphasis placed on the incidence of spinal cord injury, causes of spinal cord injury, different levels of tetraplegia and the management of patients with tetraplegia. The psychosocial problems encountered by black patients with tetralpegia once discharged from the hospital were discussed. The emphasis was placed on the patients’ emotional reaction to the injury, adjustment towards the injury and the guidelines for social work intervention with regard to the patient with tetraplegia. Ten respondents participated in the study after they were selected by using availability sampling and the study revealed the following. Tetraplegia results in a variety of psychosocial problems for both the patient and his/her family, which are: Negative marital relationships and desertion by the healthier spouse. Disturbed family relationships. Negative self-esteem and lack of self-confidence due to physical limitations. Poor quality of life, stigmatization by the community and inaccessibility in as far as public transport is concerned. Tetraplegia triggers psychological, social and financial problems. It is therefore concluded that social work intervention in the initial phase of the injury will ensure that the patients’ psychosocial problems are explored and attended to, to prepare the patients for the difficult life thereafter. / Dissertation (MA (SW) Health Care)--University of Pretoria, 2007. / Social Work and Criminology / MA (SW) / unrestricted

The impact on health, mental state and quality of life in people after spinal cord injury is enormous. Significant impairment occurs not only of sensorimotor functions. The autonomic nervous system is also disturbed to some extent, which is very closely related to the management of cardiovascular functions (and heart rate). The aim of this study is to evaluate the effect of different physical activities on heart rate in people after spinal cord injury. The study included 30 people in the chronic stage after spinal cord injury, which were divided into 3 groups according to the neurological level of the spinal cord lesion in tetraplegics (lesion C1-C8), paraplegics with high thoracic lesion (T1-T6), and paraplegics with lesion from T6 below. Each proband completed 4 exercise tests on sports simulators (rowing, kayaking and cross-country trainer and Rotren) and peak heart rate values (SFpeak) were measured after reaching the subjective maximum load (according to the Borg RPE scale). The values of SFpeak were then statistically processed, evaluated and compared - within groups between sports simulators and between groups. The results of the statistical processing show that the sports simulators are not different in terms of reaching the top SFpeak. Although differences between peak heart rate values...