Background: The posterior subthalamic area (PSA) is essentially composed of the caudal Zona incerta and the prelemniscal radiation. Subthalamotomy in the PSA was renowned for its effectiveness in alleviating movement disorders and particularly tremor. The modern literature on DBS of this area is limited, but promising results have been presented for Parkinson’s disease (PD), essential tremor (ET) and other movement disorders.   Aim: To evaluate the safety of PSA DBS with emphasis on the panorama of side effects, the distribution of stimulation-induced side effects and the effects of PSA DBS on verbal fluency. To evaluate the therapeutic effect of PSA DBS on less common forms of tremor, tremor-dominant PD, and concerning the long-term results in ET. Method: 40 patients were evaluated regarding side effects of the procedure. 28 patients with ET were analyzed for stimulation-induced side effects in a standardized manner. The locations of the contacts that caused stimulation-induced side effects were plotted on atlas slides. A 3-D model of the area was created based on these slides. Verbal fluency was analyzed in 17 patients with ET before surgery, after 3 days and finally after 1 year. Five patients with less common forms of tremor and 18 with ET were evaluated according to the ETRS at baseline and one year or 3-5 years after surgery, respectively. 14 patients with mainly unilateral tremor-dominant PD were evaluated a mean of 18 months after surgery according to the motor part of UPDRS. Results: PSA DBS was associated with few serious side-effects, but a transient and mild postoperative dysphasia was found in 22.5% of the patients. There was a slight transient decline in the performance on verbal fluency tests immediately after surgery. Visualization of the contacts causing stimulation-induced side effects showed that identical responses can be elicited from various points in the PSA and its vicinity. The effect on the less common forms of tremor was excellent except for neuropathic tremor where the effect was moderate. A pronounced and sustained microlesional effect was seen for some of the patients. After a mean of 4 years with unilateral PSA DBS the total ETRS score was improved by 52.4%, tremor by 91.8% and hand function by 78.0% in the patients with ET. There was no increase in the stimulation strength over time. In PD, the scores improved 47.7% for contralateral UPDRS III. Contralateral tremor, rigidity, and bradykinesia improved by 82.2%, 34.3%, and 26.7%, respectively. Conclusions: PSA DBS generally seem to be a safe procedure, but it may be associated with transient declines of verbal fluency. There was no clear somatotopic pattern with regard to stimulation-induced side effects in the PSA. PSA DBS can alleviate tremor regardless of the etiology. The long-term effects in ET were favorable when compared to our previous results of Vim DBS. The effect on Parkinsonian tremor was satisfying, however, the reductions of rigidity and bradykinesia were less compared to previous studies of PSA DBS for PD.

Thesis (Ph.D)--Industrial and Systems Engineering, Georgia Institute of Technology, 2010. / Committee Chair: Kemp, Charles; Committee Member: Glass, Jonathan; Committee Member: Griffin, Paul; Committee Member: Howard, Ayanna; Committee Member: Thomaz, Andrea. Part of the SMARTech Electronic Thesis and Dissertation Collection.

[Truncated abstract] This thesis consists of five experimental studies from seven data collection periods. The first two studies quantitatively analyse children with and without cerebral palsy using upper limb three dimensional (3D) motion analysis. Upper limb angular kinematics and sub-structures were measured and analysed, both of which were utilised during subsequent studies. The final three studies assess the efficacy of lycra® arm splints using clinical assessments, 3D dimensional upper limb kinematics and 3D sub-structures. Study 1 analysed 3D movement sub-structures in children with and without cerebral palsy ... The aim of the study was to quantitatively analyse movement sub-structures in children with and without cerebral palsy during four functional tasks taken from the Melbourne Assessment of Unilateral Upper Limb Function (Melbourne Assessment - Randall, Johnson & Reddihough, 1999) ... Results demonstrated significant differences in angular kinematics in children with and without cerebral palsy, while the methodology developed in this study provided improved insight into the movement of the upper limb and trunk during functional tasks. Study 3 reported a randomised controlled trial of lycra® arm splints in children with cerebral palsy across all levels of the International Classification of Functioning Disability and Health (ICF) ... Lycra® arm splints were shown to have a statistically significant impact at the level of participation, whereas no significant difference was seen at the level of impairment and activity. Study 4 reported a randomised controlled trial of the effects of lycra® arm splints on 3D movement sub-structures during functional tasks in children with cerebral palsy ... This research demonstrated that movement sub-structures (including movement time) can be quantified and are amenable to change with intervention. Study 5 reported a randomised controlled trial of the effects of lycra® arm splints on angular kinematics (thorax, shoulder and elbow) during functional tasks in children with cerebral palsy ... The benefits of the splint on angular kinematics were only apparent when worn for the 3 month period, as minimum evidence was established for the short-term (1hour) and long term (3 month post splint wear) carry-over effects.

Diss. (sammanfattning) Uppsala : Sveriges lantbruksuniv., 2002. / Härtill 6 uppsatser.

Thesis (Ph.D.)--University of Alberta, 2009. / A thesis submitted to the Faculty of Graduate Studies and Research in partial fulfillment of the requirements for the degree of Doctor of Philosophy, Faculty of Physical Education and Recreation, Center for Neuroscience. Title from pdf file main screen (viewed on September 17, 2009). Includes bibliographical references.

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior / Chronic treatment of psychotic disorders is associated with adverse effects that affect motor function. Movement disorders include Parkinsonism, akathisia, dystonia and tardive dyskinesia. Magnesium (Mg) is an essential mineral for various physiological functions in the body and its supplementation is used in several diseases. The purpose of this study was investigate the effect of Mg supplementation on the prevention and reversal of orofacial dyskinesia (OD), designated as experiment 1 and 2, respectively, as well as the effect on oxidative stress parameters. In both experiments, male Wistar adult rats were used. In experiment 1, rats were randomly divided into two groups both supplemented with oral solution of magnesium aspartate (40 mg/Kg/mL) or deionized water. After 28 days of supplementation, half of each experimental group was treated with a reserpine solution (0.7 mg/kg/ml, sc) (Mg + R and R groups) or vehicle (C and Mg groups) for 3 days (every other day). One day (24 hours) after the last administration of R/vehicle, all animals were subjected to OD and catalepsy time behavioral assessments. In the experiment 2 rats were randomly divided into two groups and treated with a solution of reserpine (0.7 mg / kg / ml, sc) (R groups) or vehicle (Group C) for 3 days (every other day). Twenty-four hours after the last administration of R/vehicle, the development of OD was quantified. One-half of each experimental group was supplemented immediately once a day (by gavage) with magnesium aspartate (40 mg / kg / ml) (Mg, and groups R + Mg) or deionized water (groups C and R). The OD was measured during subsequent days (every 48 hours). Mg supplementation was maintained throughout the time of behavioral assessment (10 consecutive days). After behavioral evaluations, all animals were euthanized by exsanguination. Blood was drawn for analysis of erythrocytes lipid peroxidation (LP). The brains were immediately dissected for separating cortex, striatum and substantia nigra for determining reactive species (RS) and protein carbonyl (PC). The results showed that Mg supplementation before reserpine administration was sufficient to prevent movement disorder observed in the vacuous chewing movement frequency (VCM) and catalepsy time and also was able to prevent the generation of RS and PC, in both the cortex and the substantia nigra regions, also preventing LP in the erythrocytes. Supplementation of Mg after treatment with reserpine was able to minimize the frequency of VCM and catalepsy time, reduce the generation of RS and PC levels in both cortex and the corpus striatum regions and also reversing the increasing the level of LP in the erythrocytes. Our results underscore the importance of including alternative therapies through supplementation of essential natural substances, like magnesium, which can prevent or ameliorate motor disturbances, often related to chronic treatment of psychotic disorders that so far have no effective treatment. / O tratamento crônico de distúrbios psicóticos está associado a efeitos adversos que afetam a função motora. Os distúrbios do movimento incluem o Parkinsonismo, acatisia, distonias e também discinesia tardia. O magnésio (Mg) é um mineral essencial para diversas funções fisiológicas no organismo e sua suplementação tem sido empregada em diversas doenças. O objetivo deste estudo foi investigar o efeito da suplementação de Mg sobre a prevenção e a reversão da discinesia orofacial (DO), designados como experimento 1 e 2, respectivamente, bem como o efeito sobre parâmetros de estresse oxidativo. Em ambos os experimentos foram utilizados ratos machos Wistar adultos. No experimento 1, os ratos foram divididos aleatoriamente em dois grupos, ambos suplementados oralmente com solução de aspartato de magnésio (40 mg/Kg/mL) ou água deionizada. Depois de 28 dias de suplementação, metade de cada grupo experimental foi tratada com uma solução de reserpina (0,7 mg/kg/mL; sc) (R e Mg + R grupos) ou veículo (C e Mg grupos) durante 3 dias (em dias alternados). Um dia (24 horas) após a última administração de R / veículo, todos os animais foram submetidos a avaliações comportamentais de DO, através da quantificação de movimentos de mascar no vazio (MMV), e tempo de catalepsia. No experimento 2 os ratos foram divididos aleatoriamente em dois grupos e tratados com solução de reserpina (0,7 mg/kg/mL; sc) (grupos R) ou veículo (grupo C) durante 3 dias (em dias alternados). Vinte e quatro horas após a última administração de R / veículo, o desenvolvimento de DO foi quantificada. Metade de cada grupo experimental foi suplementado imediatamente, uma vez por dia (por gavagem) com aspartato de magnésio (40 mg/kg/mL) (grupos Mg e R + Mg) ou água desionizada (grupos C e R). A DO foi quantificada durante os dias subsequentes (cada 48h). A suplementação de Mg foi mantida durante todo o tempo de avaliação comportamental (10 dias consecutivos). Após as avaliações comportamentais todos os animais foram eutanasiados por exsangüinação. O sangue foi retirado para análise dos níveis de lipoperoxidação (LP) eritrocitária. Os cérebros foram imediatamente dissecados para a separação da região do córtex, corpo estriado e substantia nigra para a determinação de espécies reativas (ER) e de proteína carbonil (PC). Os resultados mostraram que a suplementação de Mg antes da administração da reserpina foi suficiente para prevenir os distúrbios do movimento, observados pela frequência de MMV e tempo de catalepsia; bem como foi capaz de evitar a geração de ER e PC, tanto na região do córtex como na substantia nigra, também impedindo a LP nos eritrócitos. A suplementação de Mg após o tratamento com reserpina foi capaz de minimizar a frequência de MMV e o tempo de catalepsia, reduzir a geração de ER e os níveis de PC nas regiões do córtex e do corpo estriado, revertendo também o aumento do nível de LP nos eritrócitos. Nossos resultados ressaltam a importância da inclusão de terapias alternativas através da suplementação de substancias naturais essenciais, como o magnésio, as quais podem prevenir ou atenuar distúrbios motores, frequentemente relacionados ao tratamento crônico de distúrbios psicóticos que até o momento não dispõe de um tratamento eficaz.

L'objectif de mon travail a été d'étudier les bases génétiques de deux maladies du mouvement, les mouvements miroirs congénitaux (CMM) et les dyskinésies paroxystiques kinésigéniques (PKD). Nous avons tout d'abord mis en évidence le deuxième gène impliqué dans les CMM, RAD51, et commencé à explorer quelques hypothèses physiopathologiques. Nous avons ensuite recueilli les ADN de 26 cas index de CMM isolés, et montré que près de 50% d'entre eux avaient un variant possiblement pathogène dans RAD51 ou dans le premier gène de CMM décrit, DCC. Nous avons ensuite écarté l'implication d'un troisième gène possiblement causal, DNAL4, dans 17 cas index. Enfin, nous avons collaboré avec une équipe néo-zélandaise et mis en évidence par séquençage de l'exome un nouveau gène, NTN1, codant pour le ligand de DCC, dans deux familles et un cas sporadique. En ce qui concerne les PKD, nous avons analysé le premier gène impliqué dans cette pathologie, PRRT2, dans une cohorte de 42 cas index. Nous avons ainsi montré que PRRT2 est un gène majeur de PKD dans la population européenne, impliqué dans 65% des cas typiques. Nous avons ensuite contribué à mettre en évidence l'implication de PRRT2 dans la migraine hémiplégique, et effectué une revue de la littérature montrant que les mutations de PRRT2 peuvent être responsables de phénotypes multiples de mouvements anormaux paroxystiques. Nous avons ensuite réalisé un séquençage d'exomes chez une famille et 10 trios, malheureusement sans résultat probant. Enfin, chez deux patients avec PKD atypiques, nous avons mis en évidence des mutations du gène ADCY5, récemment impliqué dans des formes complexes de dyskinésies paroxystiques. / The objective of my work was to study the genetic bases of two movement disorders, congenital mirror movements (CMM) and paroxysmal kinesigenic dyskinesia (PKD). First we uncovered the second gene implicated in CMM, RAD51, and started to explore pathophysiological hypotheses. Then we collected DNA of 26 index cases of isolated CMM, and showed that almost 50% of them had a possibly pathogenic variant in RAD51 or in the first described gene of CMM, DCC. We subsequently ruled out the implication of a possible third gene, DNAL4, in 17 cases. Finally, we collaborated with a team from New Zealand to implicate a novel gene, NTN1, coding for the ligand of DCC, in two families and one sporadic case. Concerning PKD, we analyzed the first causative gene described, PRRT2, in a cohort of 42 index cases. We showed that PRRT2 is a major gene of PKD in the European population, involved in 65% of typical cases. We then contributed to show the implication of PRRT2 mutations in hemiplegic migraine, and conducted a review of the literature concluding that PRRT2 mutations can induce multiple types of paroxysmal disorders. We sequenced the exomes of one family and 10 trios negative for PRRT2, but were unable to uncover another causative gene. Finally, in two patients with atypical PKD, we found mutations in ADCY5, a gene recently implicated in complex forms of paroxysmal dyskinesia.

The theoretical part of this dissertation presents a current view of functional (psychogenic) movement disorders (FMD) in the current International Classification of Diseases (ICD-10) referred to as dissociative (conversion) motor disorders, which has undergone significant development in the last two decades. It is a heterogeneous group of diseases with a tendency of becoming chronic diseases, which, in addition to motor symptoms, are manifested by a number of comorbid non-motor symptoms (fatigue, pain, anxiety, depression, cognitive difficulties, etc.). Despite the potential reversibility, these disorders still have an unfavorable prognosis and are associated with a low quality of life. Based on our current understanding, abnormalities of attentional processes are among the central phenomena of the development and maintenance of FMD. So far, only a minimum of studies has focused on attentional processes in the context of complex cognitive performance with contradictory findings. The dissertation had two goals. The first of the presented studies focused on the impact of subjectively assessed non-motor symptoms including subjective cognitive complaints and objectively assessed motor symptoms on the quality of life. The aim of the second study was to examine the cognitive profile of patients with FMD...

Intrastriatal injections of L-Pyroglutamate (L-PGA) in mice produced behavioral and neuropathological effects that resemble in part the kainate-injected rat striatal model of Huntington's Disease (HD). The behavioral responses induced after unilateral injections of L-PGA included circling, postural asymmetry of head and trunk and possible dyskinesias. The neuropil in the injected striatum contained dilated profiles, degenerating neurons and oligodendroglia, and numerous phagocytic microglial-like cells. A dose response relation existed. The size of the lesion (expressed as a percent volume of the striatum destroyed) ranged from 1±0.18% at 0.02 μmoles to 20.2±3.97% at 200 μmoles L-PGA (pH=7.3). L-PGA is a weak neurotoxin when compared to kainic acid. Several factors raise interest in the possible role of L-PGA in HD, including the recently reported elevated plasma levels of L-PGA in some HD patients [51,52], and these are considered in the discussion.

Thesis (M Sport Sc (Sport Science))--University of Stellenbosch, 2005. / The purpose of this study was to determine the effectiveness of a perceptual-motor development programme for children with Developmental Coordination Disorder (DCD), as identified on the Movement Assessment Battery for Children (M-ABC). A pre- and post-test design was employed in the study and data were reported as case studies. The programme included a cognitive approach to perceptual-motor activities, with special attention to visual perception. The intervention programme was implemented over six consecutive weeks, with two 45-minute sessions each week. The motor proficiency of nine of the 12 children who participated in this study improved to the point where they were no longer classified as having DCD. The reasons for this improvement could be attributed to the regular practise provided by the perceptual-motor activities that were the content of the program and to the method of presentation, i.e. the cognitive strategies that were child-centred, which could have helped develop self-confidence in the children. These results are in agreement with the research of Schoemaker and Kalverboer (1994) that many children with DCD may learn to overcome or cope with their movement problems. The three children who performed most poorly on the M-ABC pre-test did not improve over the course of the intervention programme. A thorough examination of their perceptual-motor system could provide more information about the various factors that may contribute to their movement problems. It is also possible that the programme simply was not long enough for these children (they did not get enough practise) and/or they were not able to respond to the child-centred cognitive approach in such a short period of time.