Iron-independent initiation of neurodegeneration in BPAN
Objective: Beta-propeller protein–associated neurodegeneration (BPAN) is caused by mutations in WDR45 and classified within the neurodegeneration with brain iron accumulation (NBIA) spectrum. Although brain iron…Multimodal Quantitative MRI Improves Parkinson’s Disease Classification
Objective: To evaluate multimodal MRI discrimination of Parkinson’s disease using RPCA–kNN and associations with MDS-UPDRS. Background: Parkinson’s disease (PD) involves progressive neurodegeneration affecting basal ganglia…Basal Ganglia Hypointensity Associated with Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS)
Objective: To present a new case of glucose transporter type 1 deficiency syndrome (GLUT1-DS) diagnosed in adulthood and to describe the associated radiological findings. Background:…Very late-onset PKAN presenting with parkinsonism and lingual tremor at age 52
Objective: To report a very late-onset case of pantothenate kinase-associated neurodegeneration (PKAN) initially diagnosed as Parkinson’s disease. Background: PKAN, the most common form of neurodegeneration…Quantitative Susceptibility Mapping Revealed Regional Iron Alteration and As a Biomarker for Dopaminergic Deficits in Parkinson’s Disease
Objective: This study aimed to identify regions with altered brain iron accumulation using quantitative susceptibility mapping (QSM) and to investigate the association between iron deposition…Homozygous ATP13A2 Mutation Associated Kufor-Rakeb Syndrome Expanding The Spectrum Of Juvenile Parkinsonism
Objective: To describe the clinical, genetic, and phenotypic aspects of a patient with Kufor-Rakeb syndrome (KRS), an ultra-rare juvenile parkinsonism caused by ATP13A2 mutations. Background:…A Rare Case of PLA2G6 Gene Related Early-Onset Dystonia-Parkinsonism; What Not to Miss Clinically and Radiologically
Objective: PLA2G6-associated neurodegeneration (PLAN) is a rare form of neurodegeneration with brain iron accumulation (NBIA) leading to heterogeneous clinical manifestation including infantile neuroaxonal dystrophy, atypical…Accelerated brain iron accumulation secondary to hypoxia in a patient with hereditary haemochromatosis with homozygous C282Y mutations.
Objective: To describe the case of a 60-year-old male with a diagnosis of Hereditary Haemochromatosis (HHE) with homozygous C282Y mutations presenting with progressive parkinsonism, cognitive…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…
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