Genetic and clinical investigation of young onset dystonia in Korea: What can we learn?
Objective: In this study, we performed whole exome sequencing (WES) in Korean patients with young-onset dystonia, and investigated important factors associated with WES in dystonia.…Sustained Functional Benefits After a Single Injection with AbobotulinumtoxinA Using a 2mL Injection Volume in Adults with Cervical Dystonia
Objective: We present efficacy, patient-reported outcomes (PROs), and safety in adults with cervical dystonia (CD) at last available visit after a single abobotulinumtoxinA injection using…A software framework for objective and quantitative audio-analysis of Embouchure Dystonia (ED)
Objective: Development of an automated audio-analysis software framework for aiding in biomarker identification to objectively quantify ED severity. Background: ED, the second most common phenotype…Nigrostriatal degeneration in DYT-PRKRA: new insights on a rare disorder
Objective: To describe a genetically proven DYT-PRKRA (DYT16) case with documented loss of presynaptic dopamine transporters. Background: DYT-PRKRA is an autosomal recessive disorder combining generalized…A protocol to probe the mechanisms underlying disordered sub-cortical processing in cervical dystonia using emotional faces.
Objective: Probing the mechanisms underlying disordered sub-cortical processing in the pathogenesis of the non-motor symptoms of cervical dystonia (CD) is of great clinical importance. We…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.…Rapidly progressive cognitive decline and hemi-dystonia due to anti-neuronal surface antibodies
Objective: To describe a case of marked asymmetric coarse tremor and dystonia in patient diagnosed with anti-NMDAR encephalitis. Background: Anti-NMDAR encephalitis has complex and heterogeneous…Unusual expression of fragile X premutation in a female patient: clinical and tractographic description
Objective: To present a case of dystonic head tremor in a female FMR1 premutation carrier. Background: Fragile X-associated tremor ataxia syndrome (FXTAS) is the main…Positive response to Botulinum Toxin injections in a patient with Painless Hand with Moving Fingers: A Case Report and Literature Review
Objective: Objective: We present a rare case and literature review of Painless Hand with Moving Fingers (PHMF) that adequately responded to Onabotulinum toxin A (Botox)…Descriptive Presentation of MRI Findings in Multiple Sclerosis Patients with Tonic Spasm
Objective: It may provide a better gathering of data for further Meta-analyses regarding factors associated with tonic spasm in MS. Background: The lower prevalence of…
