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).…Accuracy of AI-driven automated diagnostic software analyzing Susceptibility Map-Weighted Imaging to Differentiate Neurodegenerative from Non-neurodegenerative Parkinsonism
Objective: To determine the accuracy of AI-driven automated diagnostic software analyzing susceptibility map-weighted imaging (SMWI) to distinguish neurodegenerative from non-neurodegenerative parkinsonism in patients who had…Superficial siderosis; a case review
Objective: To highlight an often overlooked cause of ataxia with hearing impairment. Background: Superficial siderosis (SS) of the nervous system is caused by chronic hemosiderin…Cortical Pencil Lining in Brain MRI of a Patient with Chorea and Hepatic Cirrhosis
Objective: To propose a novel etiology for cortical pencil lining Background: Cortical pencil lining refers to the presence of linear hypointense tracings within the cortical…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…
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