Clinical and Genetic Characteristics of PLA2G6-parkinsonism in Southwest China and a Comprehensive Literature Review
Objective: To comprehensively characterize the clinical, imaging and genetic features of PLA2G6-related parkinsonism. Background: Biallelic PLA2G6 mutations are associated with early-onset autosomal recessive parkinsonism, exhibiting a…Dystonic Tremor as a Prognostic Marker of Deep Brain Stimulation Success in Cervical Dystonia
Objective: This study aims to evaluate the prognostic significance of dystonic tremor in CD patients undergoing DBS. Specifically, we analyze whether the presence of preoperative…The Vodka Trial: Clinical and Genetic Characteristics of Alcohol Responsiveness in Laryngeal Dystonia
Objective: To determine the objective characteristics of alcohol responsiveness in laryngeal dystonia (LD) using a standardized alcohol challenge test and genetic testing. Background: LD is…Quality of life measurement in patients with generalized dystonia who underwent deep brain stimulation treatment.
Objective: To measure the improvement in perceived Quality of Life (QoL) in patients who underwent to DBS placement. Background: Generalized dystonias are characterized by sustained…Underlying Diseases in a Patient with Upper Limb Clumsiness Suspected of Corticobasal Degeneration
Objective: This study aims to review the case of a patient with suspected corticobasal syndrome (CBS) who presented with upper limb clumsiness, and to discuss…Tremor Predominant Presentation Of DYT-TOR1A
Objective: To present a case report of a patient exhibiting tremors as the primary manifestation of DYT-TOR1A at onset, along with a review of the…Axis Characteristics of Oscillatory Head Movements in Cervical Dystonia
Objective: To describe the axis characteristics for different patterns of oscillatory head movement in Cervical Dystonia (CD). Background: CD is associated with a variety of…Blinded video-based analysis of dystonia before and after unilateral High Intensity Focused Ultrasound thalamotomy in Essential and Dystonic Tremor
Objective: To determine the risk of worsening or unmasking dystonia following a unilateral High Intensity Focused Ultrasound ventral intermediate thalamotomy (Vim-HiFUS) in medication refractory Essential…Expanding the Clinical Spectrum of Fejerman Syndrome: Insights from Video EEG and Long-Term Follow-Up
Objective: We review the clinical spectrum of infants diagnosed with Fejerman syndrome, provide detailed phenomenology through video review and long-term outcomes Background: First described by…Delayed Diagnosis of Cervical Dystonia: A Case Report Highlighting the Importance of an on-time Specialist Evaluation
Objective: To present a case of cervical dystonia misdiagnosed as anxiety disorder for five years, emphasizing the critical need for timely recognition and appropriate treatment…
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