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…Differentiating the substantia nigra pars compacta and ventral tegmental area in early-stage Parkinson’s disease using quantitative susceptibility mapping
Objective: To assess iron levels in dopaminergic midbrain nuclei using quantitative susceptibility mapping for identification of biomarkers of PD. Background: The midbrain dopaminergic system plays…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…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…Studying genes involved in abnormalities of the basal ganglia and iron homeostasis using gene co-expression network analysis
Objective: To unravel the disease mechanisms underlying neurodegeneration with brain iron accumulation (NBIA) and to identify potential novel disease genes. Background: NBIA is clinically and…Autosomal dominant PANK2 mutation resulting in cervical dystonia with iron accumulation in the basal ganglia
Objective: Identification and functional analysis of the disease-causing gene in a family with dominantly inherited cervical dystonia. Background: With the introduction of next generation sequencing…Caudate nucleus atrophy as an early finding of Neuroferritinopathy
Objective: To report the presence of caudate nucleus atrophy from early stages of Neuroferritinopathy. Background: Neuroferritinopathy is a form of neurodegeneration with brain iron accumulation,…
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