neurodegeneration with brain iron accumulation


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neurodegeneration with brain iron accumulation

A group of genetically heterogeneous disorders—the prototypic form of which is Hallervorden-Spatz disease—characterised by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements—e.g., parkinsonism and dystonia.
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Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
A novel deletion mutation of exon 2 of the C19orf12 gene in an Omani Family with mitochondrial membrane protein- associated neurodegeneration (MPAN)
The sign is considered the distinctive radiologic feature of Neurodegeneration with Brain Iron Accumulation (NBIA) type 1, also known as pantothenate kinase associated neurodegeneration (PKAN).
Neuroimaging features of neurodegeneration with brain iron accumulation.
Eye of tiger sign: clinical phenotypes

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