Entry |
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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.
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Category |
Nervous system disease
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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
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Pathway |
hsa00770 | Pantothenate and CoA biosynthesis |
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Gene |
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Other DBs |
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Reference |
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Authors |
Friedman A, Arosio P, Finazzi D, Koziorowski D, Galazka-Friedman J |
Title |
Ferritin as an important player in neurodegeneration. |
Journal |
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Reference |
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Authors |
Kurian MA, McNeill A, Lin JP, Maher ER |
Title |
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). |
Journal |
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Reference |
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Authors |
Kamate M, Mali R, Tonne V, Bubanale S |
Title |
'Eye-of-the-tiger' sign and classic pantothenate kinase associated neurodegeneration. |
Journal |
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Reference |
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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 |
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Reference |
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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 |
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Reference |
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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 |
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Reference |
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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 |
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Reference |
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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 |
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