Palliative care in 9 children with neurodegeneration with brain iron accumulation

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neurodegeneration with brain iron accumulation: an overview

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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...

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Neurodegeneration 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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Psychotic Disorder in Neurodegeneration with Brain Iron Accumulation.

Introduction Neurodegeneration with brain iron accumulation (NBIA) refers to a group of disorders that are characterized by iron accumulation, particularly in the basal ganglia (1). This process results in progressive dystonia, spasticity, Parkinsonism, neuropsychiatric abnormalities, optic atrophy or retinal degeneration. The worldwide prevalence of NBIA has been estimated at 1:1,000,000. The ...

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A 55-year-old African Canadian man with insulin-dependent diabetes mellitus and alcohol abuse presented with diabetic ketoacidosis. Progressive cognitive decline over the previous 5 years resulted in long-term care placement. Aside from pigmentary retinopathy, general examination was unremarkable. MRI demonstrated iron accumulation in the brain (figure 1) and liver (figure 2A). Ceruloplasmin, a...

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ژورنال

عنوان ژورنال: Neurological Sciences

سال: 2019

ISSN: 1590-1874,1590-3478

DOI: 10.1007/s10072-019-04099-5