KEGG   DISEASE: H00833Help
Entry
H00833                      Disease                                

Name
Neurodegeneration with brain iron accumulation (NBIA);
Hallervorden-Spatz syndrome;
Pantothenate kinase-associated neurodegeneration (PKAN);
Neuroferritinopathy;
Aceruloplasminemia
Description
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), FTL (neuroferritinopathy), CP (aceruloplasminemia), FA2H (Fatty acid 2-hydroxylase) and ATP13A2 (ATPase type 13A2) genes. 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.
Category
Nervous system disease
BRITE hierarchy
Pathway
Glycerophospholipid metabolism
Ether lipid metabolism
Arachidonic acid metabolism
Linoleic acid metabolism
Pantothenate and CoA biosynthesis
Porphyrin and chlorophyll metabolism
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
Serotonergic synapse
Long-term depression
Mineral absorption
Gene
(NBIA1) PANK2 [HSA:80025] [KO:K09680]
(NBIA2A, NBIA2B) PLA2G6 [HSA:8398] [KO:K16343]
(NBIA3) FTL [HSA:2512] [KO:K13625]
(Aceruloplasminemia) CP [HSA:1356] [KO:K13624]
(SPG35) FA2H [HSA:79152]
ATP13A2 [HSA:23400] [KO:K13526]
Marker
The eye-of-the-tiger sign at MR imaging
Other DBs
Reference
PMID:21550835 (description, gene)
  Authors
Friedman A, Arosio P, Finazzi D, Koziorowski D, Galazka-Friedman J
  Title
Ferritin as an important player in neurodegeneration.
  Journal
Parkinsonism Relat Disord 17:423-30 (2011)
Reference
PMID:21480873 (description, gene)
  Authors
Kurian MA, McNeill A, Lin JP, Maher ER
  Title
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
  Journal
Dev Med Child Neurol 53:394-404 (2011)
Reference
  Authors
Kamate M, Mali R, Tonne V, Bubanale S
  Title
'Eye-of-the-tiger' sign and classic pantothenate kinase associated neurodegeneration.
  Journal
Indian J Pediatr 78:121-2 (2011)
Reference
  Authors
Kruer MC, Paisan-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ
  Title
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
  Journal
Ann Neurol 68:611-8 (2010)

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