Plasma glucosylsphingosine in GBA1 E326K, N370S and L444P mutation carriers with and without Parkinson’s disease
Objective: To measure plasma glucosylsphingosine levels in heterozygous carriers with and without Parkinson's disease (PD) of three variants in GBA1: 1. E326K (risk factor for…Adult onset cerebrotendinous xanthomatosis (CTX) with parkinsonism responding to bilateral subthalamic nucleus deep brain stimulation
Objective: To describe a young male diagnosed with cerebrotendinous xanthomatosis who responded favourably to subthalamic nucleus deep brain stimulation (STN-DBS). Background: Cerebrotendinous Xanthomatosis is an…Disorder of bulk lipid transfer? Lipid composition and distribution in cellular models of VPS13A disease
Objective: To study the overall lipid composition and distribution in red blood cells (RBCs) and neurons derived from VPS13A disease patients, a neurodegenerative disorder associated…The role of GBA1 mutations in the relationship between GBA1 and alpha-synuclein in Parkinson disease
Objective: The aim of the study was to understand how the E326K GBA1 mutation results in an increased risk for Parkinson disease, through influencing the…Sex differences in vascular risk factors for Parkinson’s disease
Objective: Our aim is to illustrate the incidence of vascular risk factors (VRF) in a cohort of patients with confirmed Parkinson's disease (PD) and characterize…Mitochondrial and autophagy alteration in a new fatty acid hydroxylase-associated neurodegeneration (FAHN) model
Objective: Establishing a FAHN Drosophila model to identify cellular disease mechanisms. Background: Fatty acid hydroxylase-associated neurodegeneration (FAHN) is an early-onset neurodegenerative disease that manifests brain…Blood Lipid Biomarkers in Early Parkinson Disease and Parkinson Disease with Mild Cognitive Impairment
Objective: This study aims to investigate the association between comprehensive blood lipid biomarkers and Parkinson's disease (PD). Background: Studies have shown that the serum levels…The Correlation Analyses of Parkinson’s Disease with Serum Homocysteine, Folic Acid and Vitamin B12
Objective: To explore the associations of serum homocysteine (Hcy), folic acid (FA) and vitamin B12 (VitB12) levels with the severity of Parkinson's disease (PD), as…Serum Metabolomic Characterization of PLA2G6-associated Dystonia-Parkinsonism: a case-control biomarker study
Objective: PLA2G6 is the causative gene for autosomal recessive Dystonia-Parkinsonism (PARK14). This case-control biomarker study aimed to test serum metabolomics of patients diagnosed as PARK14.…α-Synuclein molecular behavior and proteomic profiling distinguish subtypes of Lewy body disorders
Objective: We hypothesized that the clinical heterogeneity found in Lewy body disorders is a consequence of the molecular diversity of αSyn between different patients as…
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