Neurodegeneration with Brain Iron Accumulation: A Cautionary Tale
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چکیده
منابع مشابه
Neurodegeneration with brain iron accumulation: A cautionary tale.
Hallervorden and Spatz first described, in a sibship of 12, five sisters with clinically increasing dysarthria and progressive dementia, whose brains showed a brown discoloration of the globus pallidus and substantia nigra. Subsequently the basis has been shown to be a neurodegeneration with brain iron accumulation or pantothenate kinase-associated neurodegeneration due to mutations in the pant...
متن کاملneurodegeneration with brain iron accumulation: an overview
how to cite this article: tonekaboni sh, mollamohammadi m. neurodegeneration with brain iron accumulation: an overview. iran j child neurol. 2014 autumn;8(4): 1-8. abstract objective neurodegeneration with brain iron accumulation (nbia) is a group of neurodegenerative disorder with deposition of iron in the brain (mainly basal ganglia) leading to a progressive parkinsonism, spasticity, dystonia...
متن کاملNeurodegeneration with brain iron accumulation.
Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive extrapyramidal disorders with radiographic evidence of focal iron accumulation in the brain, usually in the basal ganglia. Patients previously diagnosed with Hallervorden-Spatz syndrome fall into this category. Mutations in the PANK2 gene account for the majority of NBIA cases and cause an autosomal recessive...
متن کاملNeurodegeneration with Brain Iron Accumulation: An Overview
OBJECTIVE Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorder with deposition of iron in the brain (mainly Basal Ganglia) leading to a progressive Parkinsonism, spasticity, dystonia, retinal degeneration, optic atrophy often accompanied by psychiatric manifestations and cognitive decline. 8 of the 10 genetically defined NBIA types are inherited as auto...
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Pantothenate kinase 2 deficiency (previously known as Hallervorden-Spatz disease) is an unusual metabolic disorder characterized by progressive extrapyramidal dysfunction and dementia. A 27-year-old Caucasian presented with a major depression disorder and social phobia since adolescence. Patient had marked paranoia, auditory hallucinations, extrapyramidal dysfunction, poor memory, and gait abno...
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ژورنال
عنوان ژورنال: European Neurology
سال: 2006
ISSN: 0014-3022,1421-9913
DOI: 10.1159/000095149