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Dystonia

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121. Imaging Neuromelanin and Iron in Dystonia/Parkinsonism

Imaging Neuromelanin and Iron in Dystonia/Parkinsonism Imaging Neuromelanin and Iron in Dystonia/Parkinsonism - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Imaging Neuromelanin and Iron in Dystonia (...) provided by (Responsible Party): University College, London Study Details Study Description Go to Brief Summary: To generate pilot data to investigate the potential to use in vivo iron- and neuromelanin-quantification as imaging tools for the diagnostic evaluation of movement disorders with predominant dystonia / parkinsonism. To this end we are planning to compare the MR imaging neuromelanin and iron-pattern and content in midbrain, striatum and further brain structures in clinically similar entities

2018 Clinical Trials

122. Single Treatment of DaxibotulinumtoxinA for Injection in Adults With Isolated Cervical Dystonia (ASPEN-1)

Single Treatment of DaxibotulinumtoxinA for Injection in Adults With Isolated Cervical Dystonia (ASPEN-1) Single Treatment of DaxibotulinumtoxinA for Injection in Adults With Isolated Cervical Dystonia (ASPEN-1) - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100 (...) ). Please remove one or more studies before adding more. Single Treatment of DaxibotulinumtoxinA for Injection in Adults With Isolated Cervical Dystonia (ASPEN-1) (ASPEN-1) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before participating. Read our for details. ClinicalTrials.gov Identifier

2018 Clinical Trials

123. Interactions Between Striatum and Cerebellum in ADCY5 and PRRT2 Dystonias

Interactions Between Striatum and Cerebellum in ADCY5 and PRRT2 Dystonias Interactions Between Striatum and Cerebellum in ADCY5 and PRRT2 Dystonias - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more (...) . Interactions Between Striatum and Cerebellum in ADCY5 and PRRT2 Dystonias (AMEDYST) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before participating. Read our for details. ClinicalTrials.gov Identifier: NCT03481491 Recruitment Status : Not yet recruiting First Posted : March 29, 2018 Last Update

2018 Clinical Trials

124. Non-Motor Features of Cervical Dystonia (CD)

Non-Motor Features of Cervical Dystonia (CD) Non-Motor Features of Cervical Dystonia (CD) - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Non-Motor Features of Cervical Dystonia (CD) The safety (...) for Clinical and Translational Research Information provided by (Responsible Party): Mallory Hacker, Vanderbilt University Medical Center Study Details Study Description Go to Brief Summary: This study will examine the prevalence of four previously identified non-motor markers in a population of cervical dystonia patients, unaffected family members, and healthy volunteers in an attempt to identify a distinct combination of non-motor symptoms that may be indicative of disease development. Condition

2018 Clinical Trials

125. Assessing Cervical Dystonia

Assessing Cervical Dystonia Assessing Cervical Dystonia - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Assessing Cervical Dystonia The safety and scientific validity of this study is the responsibility (...) -invasive, monitoring device to measure the response to treatment with botulinum toxin injections in 24 (16 Intervention and 8 control) patients with cervical dystonia. A baseline assessment, prior to botulinum treatment,will be structured around validated clinical rating scales for cervical dystonia and questionnaires and the performance of simple neck movements, and will be undertaken while the patient wears a movement sensor attached to the head with an elastic strap. The same assessments

2018 Clinical Trials

126. Impact Of Physiotherapy And Botox In Improving Functional Outcomes Among Post Stroke Focal Dystonia Patients

Impact Of Physiotherapy And Botox In Improving Functional Outcomes Among Post Stroke Focal Dystonia Patients Impact Of Physiotherapy And Botox In Improving Functional Outcomes Among Post Stroke Focal Dystonia Patients - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (...) (100). Please remove one or more studies before adding more. Impact Of Physiotherapy And Botox In Improving Functional Outcomes Among Post Stroke Focal Dystonia Patients The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT03664375 Recruitment Status : Completed First Posted : September 10, 2018 Last

2018 Clinical Trials

127. Unlocking Dystonia From Parkinson's Disease With Directional DBS Technology

Unlocking Dystonia From Parkinson's Disease With Directional DBS Technology Unlocking Dystonia From Parkinson's Disease With Directional DBS Technology - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more (...) . Unlocking Dystonia From Parkinson's Disease With Directional DBS Technology The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT03409120 Recruitment Status : Enrolling by invitation First Posted : January 24, 2018 Last Update Posted : February 7, 2019 Sponsor: University of Alabama at Birmingham Collaborator

2018 Clinical Trials

128. Pilot Single-Blind Trial of AbobotulinumtoxinA in Oromandibular Dystonia. (PubMed)

Pilot Single-Blind Trial of AbobotulinumtoxinA in Oromandibular Dystonia. Oromandibular dystonia (OMD) causes involuntary movements of masticatory and lingual muscles impairing eating, speaking, and swallowing. Treatment options are limited. The objective of this study was to determine the safety and efficacy of abobotulinumtoxinA (aboBoNTA) in OMD. A dose-finding study (phase 1) followed by a single session, prospective, single-blind trial (phase 2) was carried out. OMD subjects were evaluated (...) at baseline, 6 and 12 weeks. Muscles injected were tailored to individual symptoms using EMG guidance, but the aboBoNTA dose for each muscle was pre-specified based on phase 1 results. Evaluations were Global Dystonia Rating Scale (GDS), Unified Dystonia Rating Scale (UDRS), Clinical Global Impression (CGI) improvement and severity, and quality of life (OMDQ-25). Adverse events were monitored. The lowest dosage in phase 1 resulted in adverse effects in two of three patients and thus was used in phase 2

2018 Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

129. Sensory Trick in a Patient with Cervical Dystonia: Insights from Magnetoencephalography (PubMed)

Sensory Trick in a Patient with Cervical Dystonia: Insights from Magnetoencephalography The proposed mechanisms for the sensory trick include peripheral sensory feedback to aid in correcting abnormal posture or movement.A 53-year-old woman with cervical dystonia underwent magnetoencephalography pre- and post-botulinum toxin injection and sensory trick, which was described as yawning. Study revealed connectivity between the left frontal and inferior frontal gyrus before yawning, which changed (...) to the visual cortex and right middle frontal gyrus with yawning. Beta frequencies reduced and gamma frequencies increased after yawning.The increase in gamma frequency bands may indicate increased GABAergic activity. Increase in connectivity in the right cerebellar region underscores the importance of cerebellum in pathogenesis of dystonia.

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2018 Brain sciences

130. Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability (PubMed)

Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability Hereditary myoclonus dystonia is often due to changes in the SGCE gene. Dystonia (DYT)-SGCE has a variable phenotype that can involve focal or generalized myoclonus and various forms of task-specific, segmental, or generalized dystonia. Psychiatric comorbidities are common.We report a case of a young woman with generalized myoclonus, dystonia, and intellectual disability. She was found to have

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2018 Tremor and Other Hyperkinetic Movements

131. KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes (PubMed)

KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes Transdifferentiation of fibroblasts into induced neuronal cells (iNs) by the neuron-specific transcription factors Brn2, Myt1l, and Ascl1 is a paradigmatic example of inter-lineage conversion across epigenetically distant cells. Despite tremendous progress regarding the transcriptional hierarchy underlying transdifferentiation, the enablers of the concomitant epigenome resetting remain (...) to be elucidated. Here, we investigated the role of KMT2A and KMT2B, two histone H3 lysine 4 methylases with cardinal roles in development, through individual and combined inactivation. We found that Kmt2b, whose human homolog's mutations cause dystonia, is selectively required for iN conversion through suppression of the alternative myocyte program and induction of neuronal maturation genes. The identification of KMT2B-vulnerable targets allowed us, in turn, to expose, in a cohort of 225 patients, 45 unique

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2018 Cell reports

132. The Impairment of TorsinA's Binding to and Interactions With Its Activator: An Atomistic Molecular Dynamics Study of Primary Dystonia (PubMed)

The Impairment of TorsinA's Binding to and Interactions With Its Activator: An Atomistic Molecular Dynamics Study of Primary Dystonia Primary dystonia's prolonged muscle contractions and the associated abnormal postures and twisting movements remain incurable. Genetic mutation/deletion of GAG from TorsonA's gene resulting in ΔE303 (which weakens the binding between TorsinA and its activator, such as LULL1) primarily cause this neurodegenerative disorder. We studied TorsinA-LULL1 (...) build on previous findings and offer new insights for a better understanding of the molecular basis of Primary Dystonia. Our results have long-term potentials of guiding the development of medications for the disease.

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2018 Frontiers in Molecular Biosciences

133. Sexual dysfunction in cervical dystonia and blepharospasm (PubMed)

Sexual dysfunction in cervical dystonia and blepharospasm Sexual dysfunction is a frequent, yet underrated, symptom of neurological disease. While knowledge of non-motor comorbidity in focal dystonia is growing rapidly, there is no information on the prevalence of sexual dysfunction in cervical dystonia (CD) or blepharospasm (BL).In this controlled study, we examined sexual dysfunction in 65 patients with CD and 54 patients with BL by the Arizona Sexual Experience Scale, a validated self-rating (...) scale.Sexual dysfunction was significantly higher in CD patients (45%) than in controls (24%), and frequent in BL (39%). Interestingly, variables of dystonia such as disease duration or severity did not influence sexuality; yet, 23% of CD patients ascribed worsening of their sexual life to dystonia. Symptoms of depression were identified as the most important predictors for sexual dysfunction, followed by age, and personal status (single).Our observations establish sexual dysfunction as a frequent non

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2018 Neuropsychiatric disease and treatment

134. NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement (PubMed)

NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement Background:NKX2-1 related disorders (also known as brain-lung-thyroid syndrome or benign hereditary chorea 1) are associated with a wide spectrum of symptoms. The core features are various movement disorders, characteristically chorea, less frequently myoclonus, dystonia, ataxia; thyroid disease; and lung involvement. The full triad is present in 50% of affected individuals. Numerous additional symptoms may (...) be associated, although many of these were reported only in single cases. Pituitary dysfunction was ambiguously linked to NKX2-1 haploinsufficiency previously. Case Presentation: We examined two members of a family with motor developmental delay, mixed movement disorder (myoclonus, dystonia and chorea) and endocrinological abnormalities (peripheric thyroid disease, and pituitary hormone deficiencies). Dystonia predominated at the father, and myoclonus at the daughter. The father had hypogonadotropic

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2018 Frontiers in genetics

135. Cervical Dystonia and Executive Function: A Pilot Magnetoencephalography Study (PubMed)

Cervical Dystonia and Executive Function: A Pilot Magnetoencephalography Study Cervical dystonia (CD) patients have impaired working memory, processing speed and visual-motor integration ability. We used magnetoencephalography (MEG) to investigate changes in cerebral oscillations in CD patients during an executive function test, before and after administration of botulinum toxin.MEG data were collected from five CD patients while they performed a visual continuous performance task (CPT), before

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2018 Brain sciences

136. Interdisciplinary recognizing and managing of drug‐induced tardive oromandibular dystonia: two case reports (PubMed)

Interdisciplinary recognizing and managing of drug‐induced tardive oromandibular dystonia: two case reports Tardive dystonia is a risk factor in medical antipsychotic treatment. It often begins with repetitive involuntary jaw and tongue movements resulting in impaired chewing and detrimental effect on the dentition. The orofacial dysfunction may go unrecognized in a neurological setting. The diagnosis may be difficult so we suggest interdisciplinary collaboration.

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2018 Clinical Case Reports

137. A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia (PubMed)

A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia 30284773 2018 11 14 1738-6586 14 4 2018 Oct Journal of clinical neurology (Seoul, Korea) J Clin Neurol A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia. 596-597 10.3988/jcn.2018.14.4.596 Yoo Han Soo HS Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. Lee Hyunjoo H

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2018 Journal of clinical neurology (Seoul, Korea)

138. Transfer Dysphagia Due to Focal Dystonia (PubMed)

Transfer Dysphagia Due to Focal Dystonia The inability to propel a bolus of food successfully from the posterior part of the oral cavity to the oropharynx is defined as transfer dysphagia. The present case series describes the varied presentation of transfer dysphagia due to focal dystonia and highlights the importance of early detection by following up on strong suspicions.We describe seven cases of transfer dysphagia due to focal dystonia. Transfer dysphagia as a form of focal dystonia may (...) appear as the sole presenting complaint or may present with other forms of focal dystonia.Four out of seven patients had pure transfer dysphagia and had previously been treated for functional dysphagia. A high index of suspicion, barium swallow including videofluoroscopy, associated dystonia in other parts of the body and response to drug therapy with trihexyphenidyl/tetrabenazine helped to confirm the diagnosis.Awareness of these clinical presentations among neurologists and non-neurologists can

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2018 Journal of movement disorders

139. Oscillatory Cortical Activity in an Animal Model of Dystonia Caused by Cerebellar Dysfunction (PubMed)

Oscillatory Cortical Activity in an Animal Model of Dystonia Caused by Cerebellar Dysfunction The synchronization of neuronal activity in the sensorimotor cortices is crucial for motor control and learning. This synchrony can be modulated by upstream activity in the cerebello-cortical network. However, many questions remain over the details of how the cerebral cortex and the cerebellum communicate. Therefore, our aim is to study the contribution of the cerebellum to oscillatory brain activity (...) , in particular in the case of dystonia, a severely disabling motor disease associated with altered sensorimotor coupling. We used a kainic-induced dystonia model to evaluate cerebral cortical oscillatory activity and connectivity during dystonic episodes. We performed microinjections of low doses of kainic acid into the cerebellar vermis in mice and examined activities in somatosensory, motor and parietal cortices. We showed that repeated applications of kainic acid into the cerebellar vermis, for five

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2018 Frontiers in cellular neuroscience

140. Youngest presenting patient with dystonia 24 and review of the literature (PubMed)

Youngest presenting patient with dystonia 24 and review of the literature Dystonia 24 was first reported in 2000 as an autosomal dominant cause of dystonia caused by variants in the ANO3 gene. Although many adults have been described with dystonia 24, since 2014, an increasing number of children have also been reported. Dystonia 24 should also be considered in the differential of a child with unexplained dystonia.

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2018 Clinical Case Reports

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