Case Report: Atypical Parkinsonism Revealed as PLAG26-Associated Neurodegeneration (PLAN) on Genetic Testing
Objective: To present a case report describing a patient with atypical parkinsonism due to a rare genetic condition. Background: PLAN is one of two major…Movement disorders as a manifestation of aceruloplasminemia a case report
Objective: To develop a step-by-step diagnostic approach to aceruloplasminemia with initial presentation of movement disorders Background: Aceruloplasminemia is a rare iron overload disorder with autosomal…Genotype-Phenotype Relations in Neurodegeneration with Brain Iron Accumulation (NBIA) Genes: MDSGene Systematic Review
Objective: To provide a comprehensive review of individual-level data and genotype-phenotype relationships for genes implicated in neurodegeneration with brain iron accumulation (NBIA) disorders. Background: The…Case Report of a Brazilian Family With New VUS for PLAN
Objective: The aim is to describe a Brazilian family with new VUS of PLA2G6 in two brothers with clinical symptoms of PLAN. Background: PLAN is…L-DOPA Induced Iron Accumulation in the Ventral Midbrain: The Roles of Sex and Iron Repletion
Objective: This study aims to investigate the impact of L-3,4-dihydroxyphenylalanine (L-DOPA) on ventral midbrain (VMB) iron levels under iron deficiency (ID) and repletion (IR) conditions…Identification of Distinctive Iron Deposition Pattern in Subcortical Nuclei of Parkinson’s Disease using Radiomics: A 7T Susceptibility-Weighted Imaging Study
Objective: To develop the optimal radiomics signature of distinctive subcortical nuclei iron deposition pattern for diagnosis and differential diagnosis of Parkinson’s disease (PD) at 7T susceptibility-weighted imaging (SWI).…Sensory-motor striatum iron accumulation in patients with isolated rapid eye movement sleep behavior disorder and its correlation with processing speed performance
Objective: This study aims to examine iron deposition in striatum and substantia nigra pars compacta (SNc) functionally segmented in patients with isolated rapid eye movement…STN Iron Content Correlates with DBS Efficacy in Parkinson’s Patients: a Preliminary Study
Objective: Evaluate the relationship between baseline iron levels in the subthalamic nucleus (STN) and their impact on motor function and dopaminergic medication needs after deep…Abnormal brain iron metabolism influences neural function in isolated laryngeal dystonia
Objective: To investigate iron accumulation as a pathophysiological signature of laryngeal dystonia (LD) and assess the abnormal influence of iron on neural activity within the…The Landscape of Neurodegeneration with Brain Iron Accumulation in Indian patients: Lessons from a Multicentric Cross-sectional Study
Objective: To delineate clinical, molecular, and radiological landscape of patients with Neurodegeneration with Brain Iron Accumulation (NBIA) in a nationwide Indian cohort. Background: NBIAs are…
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