Bridging the Genomic Gap: Ancestry-Aware Polygenic Risk and Variant Discovery in African Parkinson’s Disease Cohorts
Objective: This study evaluates the shift from Euro-centric data to a diversified landscape. We aim to quantify the performance of European-derived Polygenic Risk Scores (PRS)…Intrafamilial Phenotypic Diversity Associated with Coexisting LRRK2 G2385R and a Novel GCH1 Variant: A Case Report
Objective: To describe intrafamilial phenotypic variability associated with the coexisting LRRK2 G2385R and a novel GCH1 variant in a family presenting with parkinsonism and dystonia…THD (Tyrosine Hydroxylase Deficiency) in a 39-Year-Old Woman with Early-Onset Dystonia
Objective: To report a case of tyrosine hydroxylase deficiency (THD), a rare neurometabolic disorder that disrupts catecholamine biosynthesis. This case report highlights common neurologic abnormalities,…Predicting Parkinson’s: Navigating Risk, Rights, and Regulation
Objective: This study explores the legal and ethical challenges surrounding predictive testing for Parkinson’s disease (PD), with a particular focus on its impact in employment,…Risk factors associated with Parkinson’s disease in the DRC (Case of the Initiative Plus Hospital Center, Kinshasa)
Objective: identify factors that could be associated with Parkinson's disease in Congo Background: In DRCongo, few studies have been published on Parkinson's disease to date.At…Digital Health, Telemedicine, and Artificial Intelligence in Parkinson’s Disease Management During COVID-19: A Narrative Review
Objective: The objective of this narrative review was to evaluate the effectiveness of telemedicine and AI-based technologies used for the remote monitoring and management of…Intestinal Dysbiosis in Parkinson’s Disease: Mechanisms, Clinical Implications, and Therapeutic Perspectives (2015–2025)
Objective: This narrative review aims to consolidate research published from 2015 to 2025 regarding abnormalities in gut microbiota in patients with Parkinson’s disease, emphasizing potential…Juvenile-Onset Parkinsonism With Bilateral Striatal Necrosis Associated With a Pathogenic MT-ND3 Mitochondrial Variant
Objective: To report a case of juvenile-onset parkinsonism associated with bilateral striatal necrosis and a pathogenic MT-ND3 mitochondrial DNA variant, emphasizing an atypical mitochondrial phenotype…Homozygous PRRT2 Frameshift Mutation Presenting with Infantile Onset Seizures and Childhood Episodic Ataxia
Objective: To report a rare presentation of a homozygous PRRT2 frameshift mutation manifesting as infantile-onset seizures followed by childhood episodic gait imbalance. Background: PRRT2 mutations…Rare Variant Analysis in Parkinson’s Disease Patients Stratified by Polygenic Risk
Objective: To identify rare variants that may contribute to Parkinson’s disease (PD) risk in individuals whose polygenic background does not adequately explain their disease status.…
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