A novel GRM1 variant associated with autosomal dominant cerebellar ataxia (ADCA)
Objective: To present a unique case of ataxia that adds to the genotypic variants associated with the GRM1 gene implicated in SCA44 Background: Heterozygous dominant…Amyotrophic Lateral Sclerosis with SOD1 mutation presenting with progressive cerebellar ataxia
Objective: To present a rare case of Amyotrophic Lateral Sclerosis (ALS) with cerebellar ataxia onset. Background: ALS is a fatal neurodegenerative disorder known to affect…Normal chorein protein signal on Western blot despite VPS13A mutations in VPS13A disease
Objective: Follow up on patients with strong clinical evidence on VPS13A disease, despite normal chorein band expression in Western blot. Background: VPS13A disease is a…Effects of Gandouling Tablets on the Muscle tone and stiffness of patients with Wilson’s disease: a randomized, double-blind, placebo-controlled study
Objective: To analyze the effects of Gandouling tablets(GDL) on the tone and stiffness of the biceps brachii muscle in Wilson’s disease (WD) patients, and the correlation between…Impact of Disease Severity on Presentation Subtype and OnabotulinumtoxinA Utilization in Patients with Cervical Dystonia: Results from the CD PROBE Completer Population
Objective: Examine the impact of cervical dystonia (CD) severity on presentation subtype and onabotulinumtoxinA utilization in the completer population from the CD PROBE study. Background:…COMPARISON OF ELECTROPHYSIOLOGIC AND ULTRASOUND GUIDANCE FOR ONABOTULINUM TOXIN-A INJECTIONS IN FOCAL UPPER EXTREMITY SPASTICITY AND DYSTONIA
Objective: To investigate two targeting techniques for onabotulinum toxin-A (BoNT) injection for the treatment of focal hand dystonia and upper limb spasticity: guidance with electrical…Clinical heterogeneity of DYT-KMT2B mutation in a family with monozygotic twins
Objective: We describe the clinical heterogeneity of a Danish family with complex dystonia and a variant in KMT2B not previously reported. Background: Heterozygous mutations in…Dystonic Posturing with Athetoid Movements in Stroke Without Thalamic Lesion
Objective: Case study Background: Complex hyperkinetic movement disorders are a rare complication of stroke, frequently involving posterolateral contralateral thalamic lesions. One of the proposed mechanisms…What do medical students know about dystonia? Results before and after a brief educational intervention.
Objective: To assess medical student knowledge of dystonia, and their confidence to recognise a case, before and after a brief educational intervention. Background: Dystonia remains…Application of the updated MDS criteria for prodromal Parkinson’s disease to a population-based 10-year study
Objective: We aimed to identify differences and analyze the potential added value of the updated Movement Disorders Society (MDS) research criteria for prodromal Parkinson’s disease…
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