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Ketamine Infusion Associated with Improved Neurology in a Patient with NMDA Receptor Encephalitis
Published 2013-01-01“…Large doses of sedating agents had been used to control the dystonia but were ineffective, unless she was fully anaesthetised. …”
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42
Pontocerebellar hypoplasia: clinical case and literature review
Published 2019-09-01“…Progressive microcephalus, sucking and swallowing disorders, jitteriness, generalized clonus, insufficient development of voluntary movements and cognitive functions, and dystonia can be observed. Magnetic resonance imaging (MRI) along with clinical signs and symptoms is very important in suspecting and diagnosing PCH. …”
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43
Protocol for recording physiological signals from the human cerebellum using electroencephalography
Published 2025-03-01“…This protocol has applications in recording patients with cerebellar disorders such as essential tremor, cerebellar ataxia, and dystonia.For complete details on the use and execution of this protocol, please refer to Pan et al.,1 Wong et al.,2 and Wang et al.3 : Publisher’s note: Undertaking any experimental protocol requires adherence to local institutional guidelines for laboratory safety and ethics.…”
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44
Intensive Outpatient Treatment of Depression in a Spinocerebellar Ataxia Type 1 Patient
Published 2019-01-01“…SCA1 can also include speech and swallowing difficulties, spasticity, ophthalmoplegia, cognitive difficulties, and even sensory neuropathy, dystonia, atrophy, and fasciculations. Literature has established that depressive symptoms can be exhibited with spinocerebellar ataxia patients regardless of type (T. …”
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45
Advanced Magnetic Resonance Imaging for Early Diagnosis and Monitoring of Movement Disorders
Published 2025-01-01“…These techniques enable earlier and more accurate differentiation of movement disorders, including Parkinson’s disease, progressive supranuclear palsy, multiple system atrophy, corticobasal degeneration, Lewy body and frontotemporal dementia, Huntington’s disease, and dystonia. Furthermore, MRI provides objective metrics for tracking disease progression and assessing therapeutic efficacy, making it an indispensable tool in clinical trials. …”
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46
Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln)
Published 2025-04-01“…Heterozygous mutations in ADCY5 lead to ADCY5-related dyskinesia, comprising a wide array of disabling hyperkinetic movement disorders including chorea, myoclonus and/or dystonia. We generated an induced pluripotent stem cell line from the fibroblasts of an affected patient with the common heterozygous pathogenic variant, c.1253G > A (p.Arg418Gln). …”
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Clinical and Imaging Prognosis in Patients with Delayed Encephalopathy after Acute Carbon Monoxide Poisoning
Published 2020-01-01“…The patients had diverse clinical manifestations, including memory deficits, personality changes, cognitive or executive function deficits, mood disorders, Parkinsonism, dystonia or other motor impairments, and akinetic mutism. …”
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48
From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17
Published 2014-01-01“…Among 3 affected members, one presented with HD phenocopy; one with progressive ataxia, dementia, chorea, dystonia, and seizures, and one with mild slowly progressive ataxia with minor cognitive and affective symptoms. …”
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49
Basal ganglia components have distinct computational roles in decision-making dynamics under conflict and uncertainty.
Published 2025-01-01“…We collected intracranial recordings from patients diagnosed with either Parkinson's disease (PD) (n = 14) or dystonia (n = 3) in the subthalamic nucleus (STN), globus pallidus internus (GPi), and globus pallidus externus (GPe) during their performance of a novel perceptual discrimination task in which we independently manipulated uncertainty and conflict. …”
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50
Effect of Zolpidem in the Aftermath of Traumatic Brain Injury: An MEG Study
Published 2020-01-01“…In the past two decades, many studies have shown the paradoxical efficacy of zolpidem, a hypnotic used to induce sleep, in transiently alleviating various disorders of consciousness such as traumatic brain injury (TBI), dystonia, and Parkinson’s disease. The mechanism of action of this effect of zolpidem is of great research interest. …”
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51
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus
Published 2024-01-01“…The following statements reached the highest priority: testing pediatric patients with hypotonia, developmental delay, movement disorders, and oculogyric crises; inclusion of 3-OMD dosing on DBS in neonatal screening programs; development of a clinical score to support patients’ selection for 3-OMD screening; among atypical phenotypes based on clinical characteristics of Italian patients: testing patients with intellectual disability and parkinsonism-dystonia. Discussion. Clusters of symptoms and signs can be used to prioritize testing with 3-OMD DBS. …”
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Development and Characterization of Trihexyphenidyl Orodispersible Minitablets: A Challenge to Fill the Therapeutic Gap in Neuropediatrics
Published 2024-12-01“…<b>Background:</b> Trihexyphenidyl (THP) has been widely used for over three decades as pediatric pharmacotherapy in patients affected by segmental and generalized dystonia. In order to achieve effective and safe pharmacotherapy for this population, new formulations are needed. …”
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Voxel-Wise Brain-Wide Functional Connectivity Abnormalities in Patients with Primary Blepharospasm at Rest
Published 2021-01-01“…Primary blepharospasm (BSP) is one of the most common focal dystonia and its pathophysiological mechanism remains unclear. …”
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Impact of pathogenic mutations of the GLUT1 glucose transporter on solute carrier dynamics using ComDYN enhanced sampling [version 2; peer review: 2 approved, 1 approved with reser...
Published 2022-06-01“…Several pathogenic mutations are reported in the glucose transporter subfamily SLC2, causing Glut1-deficiency syndrome (GLUT1DS1, GLUT1DS2), epilepsy (EIG2) and cryohydrocytosis with neurological defects (Dystonia-9). Understanding the link between these mutations and transporter dynamics is crucial to elucidate their role in the dysfunction of the underlying transport mechanism, which we investigate using molecular dynamics simulations. …”
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Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder
Published 2025-03-01“…GNAO1-associated disorders are ultra-rare autosomal dominant conditions, which can manifest, depending on the exact pathogenic variant in GNAO1, as a spectrum of neurological phenotypes, including epileptic encephalopathy, developmental delay with movement disorders, or late-onset dystonia. There are currently no effective treatments available, apart from symptomatic options. …”
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