Generalized dystonia and chorea with family history: Clinical case
Objective: This clinical case intends to highlight the in expansion genotypic base of the genetically undefined benign hereditary chorea, where de adenylate cyclase 5 gene…Paroxysmal multifocal dystonia with hemiplegic migraine possibly related to novel CACNA1A mutation
Objective: To report a case of a unique clinical presentation of hemiplegic migraine associated with paroxysmal multifocal dystonia possibly related to a novel CACNA1A mutation.…Analysis of sensory tricks in 45 patients with pantothenate kinase-associated neurodegeneration
Objective: To analyze and classify sensory tricks developed by patients with dystonia in the setting of pantothenate kinase-associated neurodegeneration (PKAN). Background: PKAN is a progressive…DBS neuromodulation reduces severe dystonic pain in children and young people
Objective: This review analyses the prevalence of painful dystonia in a cohort of children undergoing neuromodulation. The aim was to better understand the dystonic pain…The phenotype of ATP1A3+ Rapid-Onset Dystonia-Parkinsonism (RDP) is broader than previously defined
Objective: To update the phenotype of RDP based on a cohort of ATP1A3 mutation+ individuals. Background: RDP is caused by mutations of the ATP1A3 gene,…Comorbidity and retirement in primary focal cervical dystonia
Objective: The objective of this study was to investigate comorbidities in cervical dystonia (CD) and effect of CD to retirement rate in Finland. Background: Cervical…Prayer Dancing Dystonia: A Novel Form of Non-Occupational Task Specific Focal Dystonia
Objective: To examine and characterize an observed movement disorder in our clinic and consider it in the context of the currently-established types of Task Specific…“Stiff Young Woman”: Case report
Objective: To describe a rare presentation of a young-onset Stiff Person Syndrome patient. Background: The Stiff-Person syndrome (SPS) is classically characterized by progressive stiffness with…Frequency and Phenoptypic Spectrum of KMT2B Mutations in Childhood-Onset Dystonia: Results from a Single-Centre Cohort Study
Objective: To assess the frequency of KMT2B mutations in a cohort of patients with childhood-onset dystonia and characterize the related molecular and phenotypic spectrum. Background:…ADCY5-related disorder associated with status dystonicus
Objective: To report a case of ADCY5-related disorder case associated with status dystonicus and DBS efficacy in this patient. Background: Early-onset hyperkinesias may occur in…
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