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…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…Temporal Discrimination Threshold is Associated with Multiple Regions of Resting-State Brain Activity in Musician’s Dystonia
Objective: To examine temporal discrimination threshold (TDT) score across different but related forms of task-specific focal dystonia and to assess the correlation between TDT alterations…Dystonia, Tremor, and Dystonic Tremor
Objective: To understand the relationship between dystonia, tremor, and dystonic tremor. Background: Dystonia and tremor are distinct but frequently co-occurring movement disorders. The particularly ambiguous…Good response to bilateral GPI-DBS after 2 years in generalized dystonia due to a mutation in the KMT2B gene (DYT28)
Objective: To report a case of generalized primary dystonia due to a mutation in the histone methyltransferase gene (KMT2B) treated with globus pallidus interna deep…
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