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…Health-related quality of life in cervical dystonia; the hidden and unaddressed effect of anxiety
Objective: The aim of this study was to assess health-related quality of life in patients with cervical dystonia and assess factors considered to contribute to…Biallelic ZNF142-null mutations in patients with early-onset generalized dystonia
Objective: To identify a novel genetic factor contributing to the phenotypic expression of early-onset generalized dystonia. Background: To date, only about 20-30% of cases with…Prospective Characterization of Genetically Confirmed X-linked Dystonia Parkinsonism Patients and their Families: A 1 year longitudinal feasibility study
Objective: A one year feasibility study for a planned prospective longitudinal study of X-linked Dystonia-Parkinsonism patients and their families in rural Philippines. Background: X-linked dystonia…Case of task-specific tremor and task-specific dystonia with contralateral spread
Objective: To describe a case of task-specific tremor and dystonia. Background: Task-specific tremor is a type of action tremor that occurs during specific tasks such…Deep phenotyping adult onset isolated cervical dystonia; the importance of symptomatic anxiety and depression.
Objective: Objective:We aimed to characterise the demographic and clinical aspects of cervical dystonia (CD) patients with symptomatic anxiety and depression. We hypothesised that these patients…
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