KEGG   DISEASE: Neurodegeneration with brain iron accumulation (NBIA)Help
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
Neurodegenerative disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00833  Neurodegeneration with brain iron accumulation (NBIA)
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G20-G26  Extrapyramidal and movement disorders
   G23  Other degenerative diseases of basal ganglia
    H00833  Neurodegeneration with brain iron accumulation (NBIA)
BRITE hierarchy
Pathway
Pantothenate and CoA biosynthesis
Porphyrin and chlorophyll metabolism
Fc epsilon RI signaling pathway
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]
(NBIA4) MPAN [HSA:83636]
(NBIA5) WDR45 [HSA:11152]
(NBIA6) COASY [HSA:80347] [KO:K02318]
(Aceruloplasminemia) CP [HSA:1356] [KO:K13624]
(SPG35) FA2H [HSA:79152] [KO:K19703]
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)
DOI:10.1016/j.parkreldis.2011.03.016
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)
DOI:10.1111/j.1469-8749.2011.03955.x
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)
DOI:10.1007/s12098-010-0234-7
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)
DOI:10.1002/ana.22122
Reference
PMID:23269600 (gene)
  Authors
Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ
  Title
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
  Journal
Neurology 80:268-75 (2013)
DOI:10.1212/WNL.0b013e31827e07be
Reference
PMID:23176820 (gene)
  Authors
Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Heron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ
  Title
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
  Journal
Am J Hum Genet 91:1144-9 (2012)
DOI:10.1016/j.ajhg.2012.10.019
Reference
PMID:24360804 (gene)
  Authors
Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V
  Title
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
  Journal
Am J Hum Genet 94:11-22 (2014)
DOI:10.1016/j.ajhg.2013.11.008

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