Neurodegeneration with brain iron accumulation

Pantothenate kinase-associated neurodegeneration [DS:H02208]
Neuroferritinopathy [DS:H01779]
Aceruloplasminemia [DS:H02206]
Kufor-Rakeb syndrome [DS:H02207]

Neurodegeneration with brain iron accumulation (NBIA) is a group of progressive extrapyramidal and cognitive disorders characterized by iron accumulation predominantly in the globus pallidus, as well as extensive axonal spheroids in various regions of the brain. The most frequent genetic form is the pantothenate kinase-2 associated neurodegeneration (PKAN) with a mutation in the pantothenate kinase 2 (PANK2) gene. Other forms are associated with a mutation in phosphoslipase A2 (PLA2G6), and FTL (neuroferritinopathy). A significant proportion of children with an NBIA phenotype have no genetic diagnosis and there are additional as yet undiscovered genes that account for a number of these cases.

Nervous system disease

(NBIA1) PANK2 [HSA:80025] [KO:K09680]
(NBIA2A, NBIA2B) PLA2G6 [HSA:8398] [KO:K16343]
(NBIA3) FTL [HSA:2512] [KO:K13625]
(NBIA4) MPAN [HSA:83636] [KO:K23168]
(NBIA5) WDR45 [HSA:11152] [KO:K22991]
(NBIA6) COASY [HSA:80347] [KO:K02318]
(NBIA7) REPS1 [HSA:85021] [KO:K20068]
(NBIA8) CRAT [HSA:1384] [KO:K00624]

PMID:21550835

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PMID:21480873

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PMID:20882425

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PMID:23269600

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DOI:10.1212/WNL.0b013e31827e07be

PMID:23176820

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Am J Hum Genet 91:1144-9 (2012)
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PMID:24360804

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Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.

Am J Hum Genet 94:11-22 (2014)
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PMID:29395073

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Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Am J Hum Genet 102:266-277 (2018)
DOI:10.1016/j.ajhg.2018.01.003