PLA2G6-Associated Neurodegeneration: A Continuum of Phenotypes
Objective: To characterize the spectrum of phenotypes of PLA2G6-associated neurodegeneration in a single patient. Background: The phospholipase A2 Group VI (PLA2G6) gene encodes a cytosolic and…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…Aceruloplasminemia Presenting as Huntington’s Disease –Look –Alike with Unique MRI Features
Objective: To report case of generalised chorea due to aceruloplasminemia caused by novel mutation in the CP gene Background: Aceruloplasminemia is a type of Neurodegeneration…Complicated hereditary spastic paraplegia like presentation of homozygous c.2222G>A mutation in PLA2G6
Objective: To describe three cases of complicated hereditary spastic paraplegia (cHSP) like presentation in PLA2G6. Background: PLA2G6-associated neurodegeneration (PLAN) is a complex group of neurodegenerative…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…NBIA-like MRI findings in a patient with Huntington’s disease
Objective: To report a rare case of Huntington’s disease (HD) with MRI findings resembling neurodegeneration with brain iron accumulation (NBIA). Background: HD and NBIA are…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…
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