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.…Describing Dystonia Phenomenology and Preliminary Treatment Response in Migraine Patients
Objective: To describe dystonia phenomenology and preliminary pain response to toxin therapy in a single-center migraine cohort. Background: The co-existence of headache and craniocervical dystonia…Phenotypic variability and extreme age of presentation of GCH1 gene mutation in dopa-responsive dystonia
Objective: To highlight the wide phenotypical variability among GCH1 gene mutation carriers and the importance of molecular work-up and establishing genotype-phenotype correlations in GCH1 related…Clinical and genetic characteristics of a new mutation causing Segawa´s disease in a Spanish kindred
Objective: To describe the clinical phenotype and genetic characteristics of a novel mutation causing Segawa´s disease in a Spanish family. Background: Dopa-Responsive Dystonia (DRD) is…
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