Identification of a Novel MYORG Mutation in Autosomal Recessive Idiopathic Basal Ganglia Calcification-7 (IBGC7): A Case Report
Objective: To report a case of parkinsonism with brain calcification, novel variant Background: Idiopathic Basal Ganglia Calcification (IBGC) is a rare neurological condition. With abnormal,…Cross-Sectional and Longitudinal MRI Biomarkers of Neurodegeneration in Friedreich’s Ataxia
Objective: - To identify structural CNS changes associated with Friedreich’s ataxia (FRDA).- To characterize their longitudinal progression. Background: Friedreich’s ataxia (FRDA), the most common inherited…Modeling the Genetic Complexity of Parkinson’s Disease: Generation of Patient-Specific iPSCs with Co-occurring SNCA/GBA1 and PRKN/LRRK2 Variants
Objective: This study aimed to generate and characterize human induced pluripotent stem cell (iPSC) lines derived from two Parkinson’s Disease (PD) patients carrying combinations of…Dystonias in a Nigerian Tertiary Hospital: A Case Series Highlighting Diagnostic and Therapeutic Challenges and a Five-Year Retrospective Review
Objective: To describe three clinically diverse cases of dystonia managed at a Nigerian tertiary hospital and present findings from a five-year retrospective review of dystonia…Validation of Augmented Reality–Based Speech Biomarkers for Objective Detection and Monitoring of Parkinson’s Disease and Atypical Parkinsonian Syndromes
Objective: To validate the feasibility and diagnostic potential of an offline, head-mounted augmented reality (AR) system for automated extraction of acoustic and temporal speech biomarkers in…SLC20A2 Splice-Site Mutation (c.935-1G>A) Presenting as levodopa-responsive parkinsonism: Expanding the Phenotypic Spectrum of Primary Familial Brain Calcification
Objective: To report a case carrying a rare splice-site mutation in the SLC20A2 gene presenting as early-onset, levodopa-responsive parkinsonism. Background: Primary Familial Brain Calcification (PFBC)…Factors Influencing Participation in Genetic Testing Among Prodromal and Family History Positive Controls in Parkinson’s Disease Genetic Cohort in Thailand
Objective: To explore knowledge gaps and awareness of PD, belief in genetic determination, concerns, and group-specific factors, for making a decision to participate in a…Pueraria tuberosa improves the locomotion defects in Drosophila model of FRDA
Objective: To study the therapeutic potential of the medicinal herb Pueraria tuberosa on Drosophila model of Friedreich’s ataxia. Background: Reduced levels of the mitochondrial protein…Genetic spectrum of spinocerebellar ataxia type 27b (atx-fgf14-gaa): a single-center study
Objective: To describe the genetic spectrum of (GAA)n-expansions in the FGF14 gene (size and structural repeats) associated with SCA27B in Slavic patients. Background: The genetic…Early-Onset and Familial Parkinson’s Disease in Kyrgyzstan: A PD Cohort Subset for Family-Based Genetic Studies
Objective: To characterize early-onset and familial PD cases within a Kyrgyz PD cohort and assess their potential for future family-based genetic studies. Background: Early-onset PD…
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