MRI findings in a 65-year old female with movement disorder
Objective: We reported a 65-year-old woman presented with dysarthria, chorea, facial and neck dystonia. Background: Aceruloplasminemia is an autosomal recessive disorder characterized by progressive neurodegeneration,…Effect of P2X4 Signal Axis on Iron Metabolism in Parkinson’s Disease Animal Model
Objective: To elucidate the effect of P2X4 signal axis on iron metabolism in substantia nigra(SN)of male rats with Parkinson's disease(PD)successfully induced by 6-hydroxydopamine (6-OHDA). Background:…Quantitative Susceptibility Mapping for Differential Diagnosis of Degenerative Parkinsonisms: A Comparison with Morphometric Indexes
Objective: To use a multimodal MRI approach for differential diagnosis of patients with degenerative parkinsonisms, comparing the diagnostic accuracy of Quantitative Susceptibility Mapping (QSM) data…Iron Imaging as a Diagnostic Tool for Parkinson’s Disease: A Systematic Review and Meta-Analysis
Objective: We performed a systematic meta-analysis of SN iron imaging studies in PD to better understand the role of iron-sensitive MRI quantification to distinguish patients…Safety of Iron Chelation in Patients with Brain Iron Overload
Objective: To assess the safety of iron chelation in the treatment of regional brain iron overload. Background: Excess brain iron is evident in neurodegenerative diseases…5 cases Static Encephalopathy of childhood with NeuroDegeneration in Adulthood (OMIM 300894) in children
Objective: 5 russian female patients aged 3 to 6 years with different mutations of the WDR45 gene were examined. Background: To study the clinical picture…A case of Aceruloplasminemia with vertical saccadic eye movement abnormalities
Objective: We describe the phenotype, video-oculagraphic and neuroradiological findings of a case of aceruloplasminemia (AC). Background: Aceruloplasminemia presents in adulthood and is characterized by microcytic…Characterising the role of alpha-synuclein in ferroptotic programmed cell death in the context of Parkinson’s Disease
Objective: Despite the involvement of alpha synuclein (α-syn) pathology in Parkinson's disease (PD) pathology, the consequences on the neuropathology and the type of programmed cell…Dystonic opisthotonus: A clinical clue to neurodegeneration with brain iron accumulation in young adults
Objective: To describe the diagnostic value of dystonic opisthotonus as a clinical clue towards a diagnosis of neurodegeneration with brain iron accumulation. Background: Differential diagnosis…TUBB4A mutation: Expansion of H-ABC phenotype with apparent iron accumulation in the basal ganglia – case report and literature review
Objective: This case report expand the phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum. Background: Background: Hypomyelination with atrophy of the basal ganglia…