Asymptomatic Gaucher disease presented as Parkinsonism in 61 years old patient.
Objective: Gaucher disease is an inherited disease caused by a mutation in the glucocerebrosidase gene, causing visceral, hematologic, and skeletal involvement. [1] [2] We report…Establishing a Natural History of X-linked Dystonia Parkinsonism
Objective: Our main objective is to establish a comprehensive, quantitative assessment of movement dysfunction and bulbar motor impairments that are sensitive and specific to disease…White Matter Lesion Characteristics of Patients with Multiple Sclerosis and Parkinsonism
Objective: To evaluate whether patients with multiple sclerosis who develop parkinsonism have significant differences in regional lesion burden compared to multiple sclerosis patients who do…Identification of ZYIL1, a novel NLR family pyrin domain containing 3 protein inhibitor: a potential disease modifier in Parkinson’s disorder
Objective: Identification and evaluation of the potential of a novel NLR family pyrin domain containing 3 (NLRP3) inflammasome inhibitor (ZYIL1) as a Parkinson’s disease (PD)…Motor evaluation of Parkinson disease and Vascular parkinsonism using the TUG encephalog application
Objective: We aimed to compare gait and parkinsonian features between PD patients, VP patients and PD patients with Vascular component (PDVC) using a smartphone-based motion…Diagnostic challenges in a case of SLC6A3-related Dopamine Transporter Deficiency Syndrome
Objective: We report a case presenting with symptoms of classical Dopamine Transporter Deficiency Syndrome (DTDS) with negative results on initial whole-exome sequencing (WES), but eventually…To stimulate or not to stimulate? Bilateral subthalamic (STN) Deep Brain Stimulation (DBS) in cases of young-onset parkinsonism with mitochondrial dysfunction induced neurodegeneration.
Objective: To describe two cases of young-onset parkinsonism (YOP; case 1 with mitochondrial membrane protein associated neurodegeneration (MPAN) due to a heterozygous mutation in C19orf12;…Prodromal stage early biomarkers in Parkinson’s disease and parkinsonism in Uzbek nationality
Objective: Evaluation of prodromal stage biomarkers in Parkinson's disease and their role in disease progression Background: From a pathophysiological point of view, PD is characterized…Iron deposition and volume change of deep grey matter nuclei in PARK14 by Quantitative Susceptibility Mapping
Objective: PLA2G6 is the causative gene for autosomal recessive Dystonia-Parkinsonism (PARK14). The aim of this study was to explore the characteristics of iron deposition within…Effect of ADX-88178, a highly-selective mGlu4 PAM, on parkinsonism, dyskinesia and psychosis-like behaviours in the MPTP-lesioned marmoset
Objective: To investigate the effect of the metabotropic glutamate 4 (mGlu4) positive allosteric modulator (PAM) ADX-88178 on parkinsonism, dyskinesia and psychosis-like behaviours (PLBs) in the…
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