Nutritional Assessment in X-linked Dystonia Parkinsonism: Preliminary Results from a Pilot Study
Objective: This pilot study aims to evaluate the nutritional status of XDP patients using anthropometric measurements and nutritional assessment tools, and to determine the prevalence…Quantifying longitudinal clinical trajectories of disease progression and prognosis in Primary Brain Calcification, the Padua PBC-cohort experience
Objective: To characterize longitudinal progression of motor and neuropsychological symptoms in PBC and to identify predictors of disease prognosis Background: Primary Brain Calcification (PBC) is…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…
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