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.…Is primary writing tremor a form fruste of dystonia?
Objective: To investigate whether primary writing tremor (PWT) and dystonia share a common pathophysiology and clarify if they are different phenomenological expressions of the same…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…Striatal dopaminergic dysregulation and dystonia-like movements induced by peripheral nerve crush in a transgene DYT1 mouse model
Objective: To study changes of the dopaminergic pathway of a transgene DYT1 dystonia mouse model after induction of a dystonic phenotype by peripheral nerve crush.…Effect of Botulinum Toxin Treatment on Cervical Dystonia
Objective: To find out influence of botulinum toxin (BonT) treatment on improvement of motor symptoms and pain.To find out influence of botulinum toxin (BonT) treatment…Clinical Characteristics that Impact OnabotulinumtoxinA Treatment Adherence in Patients with Spasticity from ASPIRE
Objective: To identify patient demographics and clinical characteristics that impact onabotulinumtoxinA treatment adherence from the Adult Spasticity International Registry (ASPIRE) study. Background: A better understanding…Ecopipam, a selective D1 antagonist in development for the treatment of Tourette syndrome in children and adolescents: The Phase 2b D1AMOND Study
Objective: To describe the Phase 2b study design and optimized dosing strategy to evaluate the efficacy and safety of ecopipam in children and adolescent subjects…Is there evidence of bradykinesia in patients with Essential Tremor?
Objective: To evaluate possible abnormalities (bradykinesia) of repetitive finger movements, including the sequence effect, using kinematic techniques in patients with ET. Background: Essential tremor (ET)…Different patterns of cortical and subcortical perfusion changes in essential tremor and tremor-dominant Parkinson’s disease using voxel-based analysis of 3D arterial spin-labeling imaging
Objective: We aimed to evaluate cerebral blood flow (CBF) in patients with untreated ET, de novo tremor-dominant PD (PDT) and age- and gender- matched controls…ADL impairment and quality of life in patients with essential tremor
Objective: To investigate the relationship of tremor severity, disease related quality of life (QoL) and impairment of activities of daily living (ADL) in patients with…
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