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…Higher self-rated obsessive-compulsion in functional compared with organic dystonia
Objective: To evaluate obsessive-compulsive symptomatology in functional and organic dystonia Background: Case-control studies have reported elevated rates of obsessive-compulsion in genetic (DYT11 and DYT5) and…Zolpidem effect in task specific dystonia – clinical and neurophysiological study
Objective: We conducted a double blind, placebo-controlled crossover study to examine clinical and neurophysiological effect of zolpidem in patients with task specific dystonia. Background: Task…Movement and postural control in focal dystonia subjects measured using surface electromyography
Objective: To explore the difference in muscle activation during a postural versus movement control task in patients with focal dystonia. Background: Co-contraction of agonist and…Disease Modeling of Lesch-Nyhan Disease Using Induced Pluripotent Stem Cells
Objective: To create a resource of induced pluripotent stem cells (iPSCs) as models for exploring mechanisms of pathogenesis in Lesch-Nyhan disease (LND). Background: LND is…Prodromal features of Parkinson’s disease in women
Objective: To identify how prodromal features interact to determine Parkinson’s disease (PD) risk in women. Background: The neuronal loss that leads to PD progresses insidiously…
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