Malignant neuroleptic syndrome following a sudden deep brain stimulation battery drain: Report of two cases
Objective: In this case report we present two cases of NMS associated with sudden drain of DBS batteries (37 years old Caucasian woman and 42…Tics in Wilson’s Disease and Review of the Literature
Objective: We report a case with tics in a patient with Wilson’s Disease (WD). Background: Wilson’s disease is a genetic disorder of copper metabolism, leading…Loss of paraplegin drives spasticity rather than ataxia in SPG7: A European cohort analysis of 238 patients
Objective: The aim of this work was to delineate the clinical phenotype of SPG7 patients, integrating genetic data and follow-up examinations, taking advantage of a…Cerebellar Ataxia as a Manifestation of Hashimoto Encephalopathy
Objective: To characterize the clinical, laboratory and radiologic findings as well as prognosis of Hashimoto encephalopathy (HE) presenting with cerebellar ataxia Background: HE is a…Treatment with docosahexaenoic acid in Spinocerebellar Ataxia 38
Objective: To evaluate the safety and efficacy of docosahexaenoic acid supplementation in patients with spinocerebellar ataxia 38 (SCA 38), on clinical symptoms and changes of…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…
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