نتایج جستجو برای: neurodegeneration with brain iron accumulation
تعداد نتایج: 9480785 فیلتر نتایج به سال:
The brain iron overload disorders, collectively known as neurodegeneration with brain iron accumulation (NBIA), would seem to be tantalizing targets for chelation therapy. Efforts to lower brain iron in these disorders date back to the 1960s with deferoxamine mesylate, but systemic iron depletion limited its use. With the advent of chelators better able to specifically relieve central nervous s...
Objective To describe the clinico-radiological phenotype of 3 patients harboring a homozygous novel AP4M1 pathogenic mutation. Methods The 3 patients from an inbred family who exhibited early-onset developmental delay, tetraparesis, juvenile motor function deterioration, and intellectual deficiency were investigated by magnetic brain imaging using T1-weighted, T2-weighted, T2*-weighted, fluid...
Neuroferritinopathy is a rare genetic disease with a dominant autosomal transmission caused by mutations of the ferritin light chain gene (FTL). It belongs to Neurodegeneration with Brain Iron Accumulation, a group of disorders where iron dysregulation is tightly associated with neurodegeneration. We studied the 498-499InsTC mutation which causes the substitution of the last 9 amino acids and a...
OBJECTIVE Iron may contribute to the pathogenesis and progression of multiple sclerosis (MS) due to its accumulation in the human brain with age. Our study focused on nonheme iron distribution and the expression of the iron-related proteins ferritin, hephaestin, and ceruloplasmin in relation to oxidative damage in the brain tissue of 33 MS and 30 control cases. METHODS We performed (1) whole-...
We previously demonstrated elevated brain iron levels in myelinated structures and associated cells in a hemochromatosis Hfe (-/-) xTfr2 (mut) mouse model. This was accompanied by altered expression of a group of myelin-related genes, including a suite of genes causatively linked to the rare disease family 'neurodegeneration with brain iron accumulation' (NBIA). Expanded data mining and ontolog...
We report a patient with paradoxical vocal fold motion (PVFM) due to pantothenate kinase-associated neurodegeneration, a rare neurodegenerative disease and a subclass of neurodegeneration with brain iron accumulation disorders. PVFM is marked by normal vocal fold anatomy and physiology with intermittent adduction during the respiratory cycle. Many etiologies have been reported and include laryn...
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