Hemochromatosis and Movement Disorders
Objective: To describe a series (clinical and imaging) of movement disorders occurring in patients with hemochromatosis Background: Hemochromatosis is a frequent disease, characterized by deposits…Genetic Variant in the VPS16 Gene in a 44-year-old Patient with Generalized Dystonia
Objective: To report a case of generalized dystonia with a genetic variant in VPS16 gene, possibly related to AD dystonia 30. Background: Dystonia is characterized…Neurodegeneration with brain iron accumulation in pediatric population: Clinico-radiologic and genetic features
Objective: To correlate, clinical and magnetic resonance imaging (MRI) characteristics with genetics, of pediatric patients with Neurodegeneration with brain iron accumulation (NBIA). Background: NBIA is…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…Mutation of the ATP5F1A gene associated with dystonia, spasticity, myoclonus, cognitive impairment and epilepsy – a rare case report of a patient
Objective: We present a patient with generalized dystonia with spasticity, craniofacial dysmorphism and myoclonus on the left upper limb due to mutation of the ATP5F1A…A 24-year-old female with 18p deletion syndrome presenting with rapidly worsening dystonia
Objective: To describe a case of rapidly worsening dystonia in 18p deletion syndrome. Background: 18p deletion syndrome resulting from deletion of the short arm of…
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