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…Novel DCC Variant Identified to Cause Congenital Mirror Movements
Objective: To describe a case of lifelong motor incoordination, mirror movements, and possible dystonia caused by a novel likely pathogenic variant in the DCC gene.…Undescribed Variant of the THAP1 Gene Likely Pathogenic Associated with DYT6 – Case Report
Objective: To describe a case of dystonia DYT6 in which a variant of uncertain significance (VUS) in the THAP1 gene was found, which is likely…Chorea,dystonia, and tics:lessons learned from the clinical pattern associated with VPS13A disease
Objective: To highlight clinical manifestations of VPS13A disease Background: VPS13A disease causes motor and neuropsychiatric symptoms including dystonia, chorea, tics, and cognitive decline, but can…Dystonia associated with fluoxetine in a patient, CYP2D6*4/*4 (poor) metabolizer: role of drug-drug interactions
Objective: to present a poor metabolizer patient carrying CYP2D6*4/*4 genotype manifesting dystonia associate to fluoxetine therapy Background: Major side effect of antipsychotics is acute dystonic…Common Genotypes Of Dystonia and Response To DBS; Tertiary Center Experience
Objective: This study aims to evaluate the impact of deep brain stimulation (DBS) on monogenic dystonia. Background: Monogenic dystonia is a heterogenic group of disorders…Movement Disorder Presentations in Leukoenephalopathy with Calcifications and Cysts
Objective: The aim of this study is to describe the movement disorder phenotypes within a cohort of individuals with Leukoencephalopthy with Calcifications and Cysts. Background:…Longitudinal Assessment of Dystonic Symptoms in Rapid-Onset Dystonia-Parkinsonism: genetic dystonia symptoms vary over time
Objective: To clarify the temporal progression of symptoms in the rare genetic dystonia, ATP1A3 disease Background: The ATP1A3 gene encodes the neuronally ubiquitous α3 subunit…Autosomal Recessive GTPCH Deficiency: Redefining the Phenotypic Spectrum and Outcome
Objective: To describe the clinical phenotype of autosomal recessive GTP cyclohydrolase deficiency (ARGTPCHD), its genetic and metabolic correlates, and their possible predictive value through a…Challenges in Wilson disease management in a resource-limited country: a case report from a tertiary center
Objective: To describe a Wilson disease (WD) case report with severe neurological manifestations who was successfully treated with zinc salt monotherapy, due to unavailability of…
- « Previous Page
- 1
- 2
- 3
- 4
- 5
- 6
- …
- 29
- Next Page »