ATP1A3 Gene Mutations Associated With Rapid-Onset Dystonia-Parkinsonism (RDP) Presenting As Functional Neurologic Disorder: A Report of Two Cases
Objective: Functional neurologic disorder (FND) diagnostic criteria continues to evolve, with current emphasis on positive neurologic signs, including sudden onset, inconsistency or incongruence, without reliance…Gastrointestinal symptoms as a risk factor for the appearance of motor fluctuations in patients with advanced Parkinson disease
Objective: Gastrointestinal alterations in patients with Parkinson`s Disease (EP) provoke alterations in the absorption of levodopa that facilitates the development of motor fluctuations. Study the…Large Sample Study on Paroxysmal Kinesigenic Dyskinesia: Genotype-Phenotype Analysis and Diagnosis Recommendations
Objective: By analyzing nationwide large samples provided by China Paroxysmal Kinesigenic Dyskinesia Association(CPKDA), this study is attempted to summarize the clinical phenotypes and genetic features…Autonomic features in E46K-SNCA carriers
Objective: To evaluate structural and functional integrity of small autonomic nerve fibers and phosphorylated alpha-synuclein (p-syn) deposition in the skin of E46K-SNCA carriers as compared…Dielectric Properties of a Blood Plasma Predict Motor Deficits in a 6-Hydroxydopamine-Induced Rat Model of Parkinson’s Disease
Objective: This study presents a novel method of predicting the behavioral pattern in male Sprague-Dawley rats with motor deficits impairment, based on the measurement of…Misdiagnosis in blepharospasm: the common imitators which should not be missed
Objective: Blepharospasm is a focal dystonia whose diagnosis is completely clinical with no blood or imaging biomarker. We observed that sometimes, patients with other disorders…Challenges in Parkinson’s Disease Diagnosis in a Patient with Ipsilateral Hemimelia
Objective: Our main objective is to demonstrate the challenges involved in the diagnosis of parkinsonism in a patient with transverse failure of formation of the…Restless legs syndrome in a patient with hereditary hemochromatosis
Objective: We present a case with two disorders, hereditary hemochromatosis (HH) and Restless Legs Syndrome (RLS), each related to the two ends of the spectrum…Parakinesia brachialis oscitans due to an acute medial cerebral artery stroke
Objective: To report the case of a patient with a medial cerebral artery acute stroke who developed parakinesia brachialis oscitans after thrombolysis. Background: Although rare, …Shaking Palsy of the Larynx – a Potential Biomarker for Multiple System Atrophy
Objective: To define a clinical biomarker that allows for early identification of Multiple System Atrophy. Background: In its early stages MSA can be difficult to…
