Uncommon Presentation of Moyamoya Disease (MMD): A Case of Negative Myoclonus
Objective: We describe a case of MMD in which the patient presented with negative myoclonus. Background: Moyamoya disease (MMD) is a progressive cerebrovascular disorder characterized…Japanese family of dystonia related to GNAO1 pathogenic variant and systematic literature review
Objective: To present a young adolescent female with functional dystonia phenotype progressed to status dystonia/anarthria and mental confusion, even more molecular genetic of family members…Atypical presentation of Pantothenate Kinase-Associated Neurodegeneration in two siblings with a PANK-2 gene mutation: A case report and literature review.
Objective: To describe the cases of two siblings diagnosed with Pantothenate Kinase-Associated Neurodegeneration (PKAN) with mutations in the PANK2 gene. Background: PKAN is part of…GPi Stimulation shows Immediate Effects in Motor Improvement within Pediatric Patients with Movement Disorders
Objective: This study was conducted in order to determine whether GPi stimulation has immediate clinical effect in patients with dystonia who underwent Deep Brain Stimulation…Deep Brain Stimulation in a Patient with Dystonia-Parkinsonism Secondary to a c.609G>A PLA2G6-Associated Neurodegeneration Variant
Objective: To describe a rare likely pathogenic variant of the PLA2G6 protein and its response to deep brain stimulation (DBS). Background: PLA2G6-associated neurodegeneration (PLAN) can…Episodic Generalized Dystonia with Opisthotonus Posturing in Early Stages of Anoxic Brain Injury with Mild Degrees of Caudate Involvement
Objective: To report a rare case of episodic generalized dystonia with opisthotonus following anoxic brain injury, characterized by posterior limb of the internal capsule involvement…Clinical Improvement after Deep Brain Stimulation is associated with the Suppression of Pallidal low-frequency Oscillations in Patients with Dystonia
Objective: to investigate the relationship between pallidal activity and clinical response to deep brain stimulation (DBS) of the globus pallidus internus (GPi) Background: GPi-DBS is…Perceptual Decision Making in Cervical Dystonia: Development of a a Novel Integrated Neurobehavioural-Neurophysiological Method.
Objective: To investigate perceptual decision-making (PDM) in cervical dystonia (CD) using a novel paradigm and determine the neural basis of PDM abnormalities in a CD…Olivopontocerebellar atrophy and Hot Cross Bun sign in vertical transmitted HIV disease with non emotional pathological crying ; Case report and review literature
Objective: This case report aims to describe a rare presentation of Olivopontocerebellar atrophy in HIV related disease. Background: Olivopontocerebellar atrophy (OPCA) is the term describe…Paroxysmal Post-Traumatic Dystonia in Patients with Whiplash and Mild Traumatic Brain Injuries
Objective: To study the dystonic symptoms in patients with mild traumatic brain injury (mTBI) and whiplash injuries with or without compensation claims. Background: Dystonia may…
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