Diagnosis of GLUT1 Deficiency Syndrome in Adulthood
Objective: To present a case of GLUT1 deficiency syndrome diagnosed in adulthood emphasizing the need to keep this diagnosis in differential for adult patients with…Novel presentation of PRRT2 with paroxysmal dystonia and responsive to carbidopa/levodopa.
Objective: Present a novel case of PRRT2 positive PKD presenting with paroxysmal dystonia that responded to treatment with carbidopa levodopa. First report in the literature.…Phenotypic Spectrum In Children And Adolescents With Glucose Transporter 1 Deficiency A Multicentric Retrospective Study
Objective: To describe the spectrum of phenotypes in children and adolescents with biochemically and/or genetically proven Glucose Transporter 1 (GLUT1) deficiency. Background: The phenotypes in…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…Diagnostic yield of commercial genetic testing for dystonia in a Canadian movement disorders cohort
Objective: This study aimed to assess the diagnostic yield of commercially available genetic panels in dystonia patients and how test performance varies across dystonia subtypes.…Biallelic Variants in ACER3 Encoding Alkaline Ceramidase 3 Cause Infantile- and Early-Childhood-Onset Neurodegeneration with Progressive Leukodystrophy
Objective: To delineate the clinical phenotype and molecular spectrum of alkaline ceramidase 3 -related disease (ACER3-RD) by characterizing 60 patients from 55 independent families. Background:…
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