Subthalamotomy and thalamotomy using MgFUS: Retrospective review of 9 years of treating Parkinson’s disease and Essential Tremor.
Objective: To report a 9-year single-center experience using MRgFUS thermoablation for movement disorders. Background: Over 22000 patients with Essential Tremor (ET), Parkinson´s disease (PD) and…Personalised Success: Evaluating Hemifacial Spasm Treatment with Goal Attainment Scale
Objective: To assess the effectiveness of botulinum toxin A (BoNTA) therapy in treating hemifacial spasm (HFS) patients using Goal Attainment Scale (GAS). Background: HFS is…A RNF213 truncating variant causes an autosomal dominant disorder with brainstem and basal ganglia lesions and a Huntington-like phenotype
Objective: To report a novel stop-gain variant in the RNF213 gene in two individuals, a father and son, presenting with variable neurologic presentations and similar…Constructing a multicenter neuroimaging dataset to unveil structural brain alterations in GNAO1-related disorders
Objective: This study aims to construct a reliable neuroimaging dataset to assess the impact of GNAO1 mutations on brain development. Background: GNAO1-related disorders (GNAO1-RD) are…Simple and Effective OnabotulinumtoxinA Injection Technique for Hemifacial Spasm
Objective: In order to determine fixed-site and fixed-dose BoNT injections for HFS were easy to administer, safe, efficacious, well-tolerated, and practical this study aims to…Diagnostic yield of commercial genetic testing for dystonia in a Canadian movement disorders cohort
Objective: This study aimed to assess the diagnostic yield of commercially available genetic panels in dystonia patients and how test performance varies across dystonia subtypes.…Dystonia associated with fluoxetine in a patient, CYP2D6*4/*4 (poor) metabolizer: role of drug-drug interactions
Objective: to present a poor metabolizer patient carrying CYP2D6*4/*4 genotype manifesting dystonia associate to fluoxetine therapy Background: Major side effect of antipsychotics is acute dystonic…Tyrosine Hydroxylase Deficiency and Absence Epilepsy: An Association or Mere Coincidence?
Objective: To explore the possible relationship between tyrosine hydroxylase deficiency (THD) and absence epilepsy, with a specific focus on the role of dopamine in the…Speech and Swallowing Function Following Deep Brain Stimulation for Dystonia?
Objective: To assess the effect of deep brain stimulation(DBS) on speech and swallowing in patients with dystonia using objective pre- and post-operative assessments.There is a…Drawing Impairments Linked to Altered Cortico-Subcortical Interactions in Writer’s Cramp
Objective: We investigated neurophysiological mechanisms of writer's cramp dystonia during drawing movements. Background: Writer’s cramp is a focal task-specific dystonia characterized by involuntary muscle contractions…
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