KEGG   DISEASE: Neurodegeneration with brain iron accumulationHelp
Entry
H00833                      Disease                                

Name
Neurodegeneration with brain iron accumulation
  Subgroup
Pantothenate kinase-associated neurodegeneration [DS:H02208]
Neuroferritinopathy [DS:H01779]
Aceruloplasminemia [DS:H02206]
Kufor-Rakeb syndrome [DS:H02207]
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), 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.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00833  Neurodegeneration with brain iron accumulation
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C64  Disorders of mineral absorption or transport
     H00833  Neurodegeneration with brain iron accumulation
BRITE hierarchy
Pathway
hsa00770  Pantothenate and CoA biosynthesis
hsa00860  Porphyrin and chlorophyll metabolism
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] [KO:K22991]
(NBIA6) COASY [HSA:80347] [KO:K02318]
(NBIA7) REPS1 [HSA:85021] [KO:K20068]
(NBIA8) CRAT [HSA:1384] [KO:K00624]
Other DBs
ICD-11: 5C64.10
ICD-10: G23.0
MeSH: D006211 D019150 C565699 C548080
OMIM: 234200 256600 610217 606159 614298 300894 615643 617916 617917
Reference
  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
  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
  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
  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
  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
Reference
  Authors
Drecourt A, Babdor J, Dussiot M, Petit F, Goudin N, Garfa-Traore M, Habarou F, Bole-Feysot C, Nitschke P, Ottolenghi C, Metodiev MD, Serre V, Desguerre I, Boddaert N, Hermine O, Munnich A, Rotig A
  Title
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.
  Journal
Am J Hum Genet 102:266-277 (2018)
DOI:10.1016/j.ajhg.2018.01.003

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