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Neurodegeneration with brain iron accumulation(NBIA)

MedGen UID:
444156
Concept ID:
C2931845
Disease or Syndrome
Synonym: NBIA
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
 
Related genes: REPS1, C19orf12, COASY, DCAF17, PANK2, FA2H, ATP13A2, WDR45, PLA2G6, TBCE, FTL, CRAT, CP
 
Monarch Initiative: MONDO:0018307
OMIM® Phenotypic series: PS234200
Orphanet: ORPHA385

Definition

Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. [from ORDO]

Term Hierarchy

Follow this link to review classifications for Neurodegeneration with brain iron accumulation in Orphanet.

Professional guidelines

PubMed

Walsh KH, Soe K, Sarawgi S
Semin Pediatr Neurol 2018 Apr;25:123-135. Epub 2017 Dec 20 doi: 10.1016/j.spen.2017.12.002. PMID: 29735110
Dusek P, Schneider SA, Aaseth J
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Hegde AN, Mohan S, Lath N, Lim CC
Radiographics 2011 Jan-Feb;31(1):5-30. doi: 10.1148/rg.311105041. PMID: 21257930

Recent clinical studies

Etiology

Dusek P, Hofer T, Alexander J, Roos PM, Aaseth JO
Biomolecules 2022 May 17;12(5) doi: 10.3390/biom12050714. PMID: 35625641Free PMC Article
Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi M, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C, Marras C; on behalf of the Task Force on Genetic Nomenclature in Movement Disorders
Mov Disord 2022 May;37(5):905-935. Epub 2022 Apr 28 doi: 10.1002/mds.28982. PMID: 35481685
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Hayflick SJ, Kurian MA, Hogarth P
Handb Clin Neurol 2018;147:293-305. doi: 10.1016/B978-0-444-63233-3.00019-1. PMID: 29325618Free PMC Article
Wiethoff S, Houlden H
Handb Clin Neurol 2017;145:157-166. doi: 10.1016/B978-0-12-802395-2.00011-0. PMID: 28987166

Diagnosis

Dusek P, Hofer T, Alexander J, Roos PM, Aaseth JO
Biomolecules 2022 May 17;12(5) doi: 10.3390/biom12050714. PMID: 35625641Free PMC Article
Franco G, Lazzeri G, Di Fonzo A
J Neurol Sci 2022 Feb 15;433:120020. Epub 2021 Oct 1 doi: 10.1016/j.jns.2021.120020. PMID: 34711421
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Hayflick SJ, Kurian MA, Hogarth P
Handb Clin Neurol 2018;147:293-305. doi: 10.1016/B978-0-444-63233-3.00019-1. PMID: 29325618Free PMC Article
Schneider SA
Curr Neurol Neurosci Rep 2016 Jan;16(1):9. doi: 10.1007/s11910-015-0608-3. PMID: 26739693

Therapy

Spaull RVV, Soo AKS, Hogarth P, Hayflick SJ, Kurian MA
Tremor Other Hyperkinet Mov (N Y) 2021;11:51. Epub 2021 Nov 24 doi: 10.5334/tohm.661. PMID: 34909266Free PMC Article
Carocci A, Catalano A, Sinicropi MS, Genchi G
Biometals 2018 Oct;31(5):715-735. Epub 2018 Jul 16 doi: 10.1007/s10534-018-0126-2. PMID: 30014355
Doll S, Conrad M
IUBMB Life 2017 Jun;69(6):423-434. Epub 2017 Mar 9 doi: 10.1002/iub.1616. PMID: 28276141
Dusek P, Schneider SA
Curr Opin Neurol 2012 Aug;25(4):499-506. doi: 10.1097/WCO.0b013e3283550cac. PMID: 22691760
Hartig MB, Prokisch H, Meitinger T, Klopstock T
Curr Drug Targets 2012 Aug;13(9):1182-9. doi: 10.2174/138945012802002384. PMID: 22515741

Prognosis

Iankova V, Sparber P, Rohani M, Dusek P, Büchner B, Karin I, Schneider SA, Gorriz JM, Kmiec T, Klopstock T
Brain 2024 Apr 4;147(4):1389-1398. doi: 10.1093/brain/awad357. PMID: 37831662
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Tranchant C, Koob M, Anheim M
Parkinsonism Relat Disord 2017 Jun;39:4-16. Epub 2017 Feb 22 doi: 10.1016/j.parkreldis.2017.02.025. PMID: 28256436
Nardocci N, Zorzi G
Handb Clin Neurol 2013;113:1919-24. doi: 10.1016/B978-0-444-59565-2.00062-9. PMID: 23622415
Gregory A, Hayflick SJ
Folia Neuropathol 2005;43(4):286-96. PMID: 16416393Free PMC Article

Clinical prediction guides

Amini E, Rohani M, Fasano A, Azad Z, Miri S, Habibi SAH, Emamikhah M, Mirshahi R, Joghataei MT, Gholibeigian Z, Ghasemi Falavarjani K
Mov Disord 2024 Feb;39(2):411-423. Epub 2023 Nov 10 doi: 10.1002/mds.29644. PMID: 37947042
Dusek P, Hofer T, Alexander J, Roos PM, Aaseth JO
Biomolecules 2022 May 17;12(5) doi: 10.3390/biom12050714. PMID: 35625641Free PMC Article
Qian ZM, Ke Y
Biol Rev Camb Philos Soc 2019 Oct;94(5):1672-1684. Epub 2019 Jun 12 doi: 10.1111/brv.12521. PMID: 31190441
Hayflick SJ, Kurian MA, Hogarth P
Handb Clin Neurol 2018;147:293-305. doi: 10.1016/B978-0-444-63233-3.00019-1. PMID: 29325618Free PMC Article
Wiethoff S, Houlden H
Handb Clin Neurol 2017;145:157-166. doi: 10.1016/B978-0-12-802395-2.00011-0. PMID: 28987166

Recent systematic reviews

Emamikhah M, Saiyarsarai P, Schneider SA, Fasano A, Mohammadzadeh N, Rohani M
Can J Neurol Sci 2023 Jan;50(1):60-71. Epub 2022 Jan 24 doi: 10.1017/cjn.2021.502. PMID: 35067244
Tranchant C, Koob M, Anheim M
Parkinsonism Relat Disord 2017 Jun;39:4-16. Epub 2017 Feb 22 doi: 10.1016/j.parkreldis.2017.02.025. PMID: 28256436

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