Dystonic storm with a change of stimulation from constant voltage to constant current
Objective: Deep brain stimulation (DBS) is a FDA approved treatment for dystonia. Medtronic pulse generator (IPG), constant voltage (CV) stimulation and Boston Scientific generator, constant…Social Cognition, Neuropsychological functioning & Mood Disorder in Cervical Dystonia (CD)
Objective: This study investigated social cognition, neuropsychological functioning and mood disorder in CD. Background: CD is a hyperkinetic movement disorder of unknown cause. Although historically…A hexanucleotide repeat within a SINE-VNTR-Alu retrotransposon inserted in TAF1 modifies expressivity of X-linked dystonia-parkinsonism
Objective: To investigate the role of a hexanucleotide repeat within a SINE-VNTR-Alu (SVA) retrotransposon insertion in the TAF1 gene in modifying expressivity of X-linked dystonia-parkinsonism…Longstanding cervical dystonia followed by parkinsonism – coincidence, risk factor or syndromic association?
Objective: To describe the occurence of parkinsonism after longstanding dystonia in a cohort of patients followed for long periods in our botulinum toxin injection clinic.…RDP is associated with bulbar and limb weakness: broadening the phenotype of ATP1A3+ Rapid-Onset Dystonia-Parkinsonism (RDP)
Objective: To describe a new finding of weakness associated with RDP. Background: RDP is caused by mutations of the ATP1A3 gene. The phenotype of RDP…Stiff Limb Syndrome Masquerading As a Focal Limb Dystonia
Objective: To report a case of immune-mediated stiff limb syndrome referred for extremity focal dystonia. Background: Autoantibodies to glutamic acid decarboxylase (GAD) are associated with…After-effects Of Transcranial direct current stimulation (tDCS) On Hand Biomechanics In A Patient With Secondary Dystonia
Objective: The purpose of this study was to identify differences in kinematic arm motion after tDCS intervention based on principal component analysis that allows generating…The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders
Objective: To better delineate the genetic landscape and key clinical characteristics that define complex early onset monogenic hyperkinetic movement disorders (HMD). Background: Hyperkinetic movement disorders…Quantitative assessments better delineate rare disease: reconsidering the diagnostic criteria in ATP1A3+ Rapid-Onset Dystonia-Parkinsonism (RDP)
Objective: To revise diagnostic criteria for RDP based on a cohort of ATP1A3 mutation+ individuals. Background: RDP is caused by mutations of the ATP1A3 gene.…Depression and anxiety in cervical dystonia
Objective: We had proposed to evaluate appearance of anxiety and depression in patients with cervical dystonia(CD) and influence of disease on the quality of life.…
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