Tremor Predominant Presentation Of DYT-TOR1A
Objective: To present a case report of a patient exhibiting tremors as the primary manifestation of DYT-TOR1A at onset, along with a review of the…National Survey of DYT/PARK-GCH1 (Segawa Disease) in Japan
Objective: To clarify clinical features of Segawa Disease (SD) in Japan. Background: Prof Segawa discovered SD 50 years ago, and GCH-1 gene mutations were linked…Molecular Studies Reveal Overactive Interferon (IFN) Pathway in Two Monogenic Inherited Dystonia Types.
Objective: Our overall objective was to investigate the involvement of type I interferons (IFNs) in DYT-PRKRAand DYT-EIF2AK2. IFNs are antiviral cytokines produced by all cell…Tracking Physiological Biomarker Activity in the Globus Pallidus Internus in Two Dystonia Patients Implanted with Medtronic Percept™
Objective: Explore potential biomarkers in dystonia patients implanted with Medtronic Percept™. Background: Though highly variable in presentation and underlying cause, individuals with dystonia present with…Cerebellar connectivity predicts early response to GPi-DBS in dystonia.
Objective: To investigate the structural and functional connectivity of patients who respond early after deep brain stimulation (DBS) for dystonia. Background: DBS is an effective…Cerebrotendinous Xanthomatosis successfully treated with Chenodeoxycholic Acid Supplementation
Objective: To describe the clinical, radiological, laboratory and genetic findings of a patient with Cerebrotendinous Xanthomatosis (CTX) who presented with dystonic tremor initially and subsequently…Updates on Perception of Patients with Cervical Dystonia in Residents and Medical Students
Objective: To determine if an educational intervention can reduce external stigma of patients with cervical dystonia (CD) in medical trainees. Background: Medical trainees may or…Equity in Access to MRI-Guided Focused Ultrasound for Movement Disorders: Patient Characteristics and Treatment Disposition
Objective: To probe the characteristics of individuals undergoing MRI-guided focused ultrasound (MRgFUS). Background: MRgFUS has emerged as a non-invasive treatment that alleviates tremor through targeted…Hair Glucocorticoids and Functional Movement Disorders Insights from a Cross Sectional Study
Objective: To compare hair glucocorticoid levels between patients with Functional Movement Disorders (FMD) and healthy controls. Background: FMD are complex neurological conditions that lack specific…Severe Anti-NMDAR Encephalitis After the Covid 19 Cross-vaccination in three young women
Objective: To describe three severe cases of anti-NMDAR encephalitis in young females after the COVID-19 cross-vaccination. Background: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is the most recognized…
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