Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 31 for “"dystonia"”.
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Neuroimaging investigation of the motor control disorder, dystonia with special emphasis on laryngeal dystonia
Laryngeal dystonia (LD) is the focal laryngeal form of the neurological movement disorder called dystonia, a condition that often changes in severity depending on the posture assumed and on voluntary activity of the affected body area. Pathophysiology of dystonia is unknown. This thesis employed a …
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TorsinA and the Pathophysiology of DYT1 Dystonia
… examine the systems biology of torsinA, a DYT1 dystonia-associated protein, by using rodent model systems. TorsinA is a putative ATPase associated with a variety of cellular activities (AAA+). Deletion of glutamic acid residue 302/303 in <em>TOR1A</em> is causally associated with many cases of …
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Electromyographic Characterization in an Animal model of Dystonia
… rats. The EMG findings support the presence of dystonia in sulfadimethoxine exposed jj Gunn rats.
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Electrophysiological Analysis in an Animal Model of Dystonia
Dystonia is a movement disorder characterized by patterned, repetitive, and sustained muscle contractions that cause ineffective and often painful movements. The overall goal of this project was to understand the physiological mechanisms of dystonia in a rodent model as a basis for developing …
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Exploring the impact and experience of living with dystonia
… of the impact and experience of living with dystonia. The literature review investigated factors relating to health related quality of life (HRQOL) for people living with dystonia. The main research paper used interpretative phenomenological analysis to explore the experiences of people …
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The diagnosis of dystonia, an issue yet to be solved
… diagnostic biomarkers, the diagnosis of dystonia is based on clinical examination and therefore may be challenging and open to bias. The factors contributing to misdiagnosis of dystonia can be summarized in two main points: i) the huge variability in the clinical phenomenology of …
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Patterns and biomarkers of X-linked dystonia parkinsonism disease progression
X-linked dystonia parkinsonism is a neurodegenerative movement disorder that originate from the island of Panay, Philippines. Though this is a relatively novel disease, efforts have been directed towards solving the etiology, which currently points to an expansion in the TAF1 gene. This gene plays …
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Generation and Analysis of Gene-Targeted Mouse Models for Oppenheim's Early-Onset Dyt1 Dystonia
… movement disorder of Oppenheim's early-onset dystonia. The function of torsinA and the role of the mutation in causing dystonia are unknown. To gain insight into these unknowns, we made two gene-targeted mouse models: a knockin Dyt1 DeltaGAG (KI) to mimic the mutation found in DYT1 dystonic …
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The threshold of clinical severity of cervical dystonia for positive 18F-FDG PET/CT study
… between the clinical severity of cervical dystonia (CD) and 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) findings and to determine the threshold of the clinical severity of CD for acquisition of positive 18F-FDG PET/CT study findings. METHODS: …
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Seeking Release From the Armour of Dystonia as the Mother-Showman in Suzan-Lori Parks’ Venus
… the journey to seek release from the armour of dystonia and patiently rebirth my inner artist through playing the role of The Mother-Showman in Suzan-Lori Parks’ Venus. I set out to rediscover an uninhibited channel of expression and melt my more recent protective nature through physical and …
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Temporomandibular Disorder Related Characteristics and Treatment Outcomes in Oromandibular Dystonia Patients in Two Different Clinical Settings: A Cross-Sectional Study
… Clinical presentation of oromandibular dystonia is variable and it can be further complicated with presence of TMD symptoms. We sought to evaluate variations in clinical presentation of OMD patients, particularly TMD related characteristics, in two clinic settings. Methods: In a …
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Computational studies of cerebellar cortical circuitry
… into transient phenotype such as episodic dystonia. Understanding the cerebellum function is an ongoing challenge. The cerebellum has been implicated in error processing required for on-line motor control and motor learning. The dominant view is that the error related signals are encoded by …
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Detecting the inclusion and exclusion of a neuronal XDP-associated microexon in situ
X-linked dystonia parkinsonism (XDP), also known as torsion dystonia type 3 (DYT3), afflicts hundreds of individuals. Under an X-linked mode of inheritance, the DYT3 haplotype occurs in Filipino populations and is of the highest frequency in the Panay Islands of the Philippines. Recently, …
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An Investigation of TorsinA Interaction Partners
… disorder DYT-TOR1A early-onset isolated dystonia. DYT-TOR1A is a heritable form of dystonia characterized by involuntary twisting movements and postures that arise during adolescence. A glutamate deletion towards the C terminus of TorsinA leads to DYT-TOR1A by disrupting the ability for …
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The effect of mechanical vestibular stimulation on muscle tone and spasticity in individuals with neurological impairment
… specifically in two subjects who have no dystonia. Four of the subjects have dystonic spasticity and the other three do not have dystonia along with spasticity. The vestibular stimulation effect is different between the two groups, and it is found that stimulation do not have the same …
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Molecular genetic investigation of autosomal recessive neurodevelopmental disorders
… a complex motor disorder, infantile parkinsonism-dystonia, and identified loss-of function mutations in the gene encoding the dopamine transporter (SLC6A3). Subsequent acquisition of a cohort of similarly affected children allowed detailed clinical and molecular characterisation of this novel …
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Design and validation of chronic research tools for an implantable closed-loop neurostimulator
… of Parkinson's Disease, Essential Tremor and Dystonia, and are in clinical evaluations for Epilepsy and Depression. Despite the success of DBS therapy, the current systems are open-loop, where the clinician is the sensor and control algorithm, and hence these are programmed with stimulation …
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Study of the Functional Role of ATP1A3A in the Vertebrate Nervous System
… in ATP1A3A have been linked to rapid-onset dystonia-parkinsonism and alternating hemiplegia of childhood in humans and has also been shown to cause motor deficits, neuronal excitability, and perinatal death in various animal models. Our lab has generated a mutant in zebrafish (Danio rerio) …
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A clinical and molecular genetic study into familial and sporadic Parkinson’s Disease
… phenotypes ranging from PD to Dopa-responsive dystonia. The association of this novel GCH1 mutation with late onset parkinsonism suggests a potential role for GCH1 in PD.
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