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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Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology 2008 Apr; 70(18):1614-1619.

A novel deletion mutation of exon 2 of the C19orf12 gene in an Omani Family with mitochondrial membrane protein- associated neurodegeneration (MPAN)

Bhatia, "Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA)," Current Neuropharmacology, vol.

Bhatia, "Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations," Movement Disorders, vol.

Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN

Garavaglia et al., "Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation, " Annals of Neurology, vol.

Jankovic, "Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration, " Movement Disorders, vol.

Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review

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. AJNR Am J Neuroradiol 2012;33(3):407-14.

Eye of tiger sign: clinical phenotypes

Other case shows eye of the tiger sign.(10) consistent with that of Hallervorden Spatz disease (NBIA- Neurodegeneration with Brain Iron Accumulation).

Role of magnetic resonance imaging in the diagnosis of adult onset movement disorders