Generalized chorea in a patient with isolated leukocytosis and JAK2V617F mutation: A case report
Objective: To describe late-onset generalized chorea in a patient found to have the JAK2V617F mutation without polycythemia vera. Background: Polycythemia vera (PV) is well-known to…Acute concomitant presentation of chorea and subacute combined degeneration secondary to vitamin B12 deficiency
Objective: To describe an exceptional presentation of vitamin B12 deficiency. Background: Vitamin B12 deficiency typically presents with subacute combined degeneration (SCD). Extrapyramidal symptoms are rare,…Disease Modeling of DYT1 Using Patient Induced Pluripotent Stem Cells
Objective: To create a resource of induced pluripotent stem cells (iPSCs) as models for exploring mechanisms of pathogenesis in DYT1 dystonia. Background: DYT1 an autosomal…How much does botulinum toxin injection interval impact upon patient satisfaction in the routine treatment of cervical dystonia?
Objective: Evaluate the impact of injection interval on satisfaction with botulinum toxin-A (BoNT-A) treatment in cervical dystonia (CD) patients who have been treated for 1…“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…Gamma Knife Radiosurgery for Generalised Dystonia: Is It The Last Part in The Ship of Theseus
Objective: To evaluate the role of radiosurgical thalamotomy in cases of medically refractory generalised dystonia in current era. Background: Gamma knife radiosurgery has been proved…Long-term Outcomes with Rescue Target Deep Brain Stimulation in Patients with Dystonia
Objective: Determine the long-term outcomes of rescue target deep brain stimulation (DBS) surgery in dystonia. Background: Globus pallidus internus (GPi) and subthalamic nucleus (STN) are…West Sweden Parkinson Objective Measurement Registry Study (WestPORTS)
Objective: To study a population representative Parkinson’s Disease (PD) patient cohort characterized with objective 6x24h home measurements using the Parkinson Kinetigraph (PKG, Global Kinetics). To…Levodopa-induced dyskinesias in Parkinson disease: A population-based cohort study in Olmsted County, MN (1991-2010)
Objective: To assess the frequency of dyskinesias in a population based-cohort of Parkinson’s disease patients. Background: Levodopa-induced dyskinesias are complications that may impact quality of…Speech in Huntington’s Disease
Objective: To review existing literature on speech function in Huntington’s disease (HD) across the disease spectrum. Background: Impairment in speech production affects the majority of…
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