Neurodegeneration with brain iron accumulation

Research output: Chapter in Book/Report/Conference proceedingChapter

20 Citations (Scopus)

Abstract

Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of disorders affecting children and adults. These rare disorders are often first suspected when increased basal ganglia iron is observed on brain magnetic resonance imaging. For the majority of NBIA disorders the genetic basis has been delineated, and clinical testing is available. The four most common NBIA disorders include pantothenate kinase-associated neurodegeneration (PKAN) due to mutations in PANK2, phospholipase A2-associated neurodegeneration caused by mutation in PLA2G6, mitochondrial membrane protein-associated neurodegeneration from mutations in C19orf12, and beta-propeller protein-associated neurodegeneration due to mutations in WDR45. The ultrarare NBIA disorders are caused by mutations in CoASY, ATP13A2, and FA2H (causing CoA synthase protein-associated neurodegeneration, Kufor–Rakeb disease, and fatty acid hydroxylase-associated neurodegeneration, respectively). Together, these genes account for disease in approximately 85% of patients diagnosed with an NBIA disorder. New NBIA genes are being recognized with increasing frequency as a result of whole-exome sequencing, which is also facilitating early ascertainment of patients whose phenotype is often nonspecific.

Original languageEnglish (US)
Title of host publicationHandbook of Clinical Neurology
PublisherElsevier B.V.
Pages293-305
Number of pages13
DOIs
StatePublished - Jan 1 2018

Publication series

NameHandbook of Clinical Neurology
Volume147
ISSN (Print)0072-9752
ISSN (Electronic)2212-4152

Fingerprint

Mutation
Pantothenate Kinase-Associated Neurodegeneration
Exome
Inborn Genetic Diseases
Phospholipases A2
Mitochondrial Proteins
Mitochondrial Membranes
Coenzyme A
Basal Ganglia
Genes
Neurodegeneration with brain iron accumulation (NBIA)
Membrane Proteins
Proteins
Iron
Magnetic Resonance Imaging
Phenotype
Brain

Keywords

  • BPAN
  • INAD
  • infantile neuroaxonal dystrophy
  • MPAN
  • NBIA
  • neurodegeneration with brain iron accumulation
  • pantothenate kinase
  • PKAN
  • PLAN

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Hayflick, S., Kurian, M. A., & Hogarth, P. P. (2018). Neurodegeneration with brain iron accumulation. In Handbook of Clinical Neurology (pp. 293-305). (Handbook of Clinical Neurology; Vol. 147). Elsevier B.V.. https://doi.org/10.1016/B978-0-444-63233-3.00019-1

Neurodegeneration with brain iron accumulation. / Hayflick, Susan; Kurian, Manju A.; Hogarth, Penelope (Penny).

Handbook of Clinical Neurology. Elsevier B.V., 2018. p. 293-305 (Handbook of Clinical Neurology; Vol. 147).

Research output: Chapter in Book/Report/Conference proceedingChapter

Hayflick, S, Kurian, MA & Hogarth, PP 2018, Neurodegeneration with brain iron accumulation. in Handbook of Clinical Neurology. Handbook of Clinical Neurology, vol. 147, Elsevier B.V., pp. 293-305. https://doi.org/10.1016/B978-0-444-63233-3.00019-1
Hayflick S, Kurian MA, Hogarth PP. Neurodegeneration with brain iron accumulation. In Handbook of Clinical Neurology. Elsevier B.V. 2018. p. 293-305. (Handbook of Clinical Neurology). https://doi.org/10.1016/B978-0-444-63233-3.00019-1
Hayflick, Susan ; Kurian, Manju A. ; Hogarth, Penelope (Penny). / Neurodegeneration with brain iron accumulation. Handbook of Clinical Neurology. Elsevier B.V., 2018. pp. 293-305 (Handbook of Clinical Neurology).
@inbook{0efb00b34e7b4bdeab511fc47731d829,
title = "Neurodegeneration with brain iron accumulation",
abstract = "Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of disorders affecting children and adults. These rare disorders are often first suspected when increased basal ganglia iron is observed on brain magnetic resonance imaging. For the majority of NBIA disorders the genetic basis has been delineated, and clinical testing is available. The four most common NBIA disorders include pantothenate kinase-associated neurodegeneration (PKAN) due to mutations in PANK2, phospholipase A2-associated neurodegeneration caused by mutation in PLA2G6, mitochondrial membrane protein-associated neurodegeneration from mutations in C19orf12, and beta-propeller protein-associated neurodegeneration due to mutations in WDR45. The ultrarare NBIA disorders are caused by mutations in CoASY, ATP13A2, and FA2H (causing CoA synthase protein-associated neurodegeneration, Kufor–Rakeb disease, and fatty acid hydroxylase-associated neurodegeneration, respectively). Together, these genes account for disease in approximately 85{\%} of patients diagnosed with an NBIA disorder. New NBIA genes are being recognized with increasing frequency as a result of whole-exome sequencing, which is also facilitating early ascertainment of patients whose phenotype is often nonspecific.",
keywords = "BPAN, INAD, infantile neuroaxonal dystrophy, MPAN, NBIA, neurodegeneration with brain iron accumulation, pantothenate kinase, PKAN, PLAN",
author = "Susan Hayflick and Kurian, {Manju A.} and Hogarth, {Penelope (Penny)}",
year = "2018",
month = "1",
day = "1",
doi = "10.1016/B978-0-444-63233-3.00019-1",
language = "English (US)",
series = "Handbook of Clinical Neurology",
publisher = "Elsevier B.V.",
pages = "293--305",
booktitle = "Handbook of Clinical Neurology",

}

TY - CHAP

T1 - Neurodegeneration with brain iron accumulation

AU - Hayflick, Susan

AU - Kurian, Manju A.

AU - Hogarth, Penelope (Penny)

PY - 2018/1/1

Y1 - 2018/1/1

N2 - Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of disorders affecting children and adults. These rare disorders are often first suspected when increased basal ganglia iron is observed on brain magnetic resonance imaging. For the majority of NBIA disorders the genetic basis has been delineated, and clinical testing is available. The four most common NBIA disorders include pantothenate kinase-associated neurodegeneration (PKAN) due to mutations in PANK2, phospholipase A2-associated neurodegeneration caused by mutation in PLA2G6, mitochondrial membrane protein-associated neurodegeneration from mutations in C19orf12, and beta-propeller protein-associated neurodegeneration due to mutations in WDR45. The ultrarare NBIA disorders are caused by mutations in CoASY, ATP13A2, and FA2H (causing CoA synthase protein-associated neurodegeneration, Kufor–Rakeb disease, and fatty acid hydroxylase-associated neurodegeneration, respectively). Together, these genes account for disease in approximately 85% of patients diagnosed with an NBIA disorder. New NBIA genes are being recognized with increasing frequency as a result of whole-exome sequencing, which is also facilitating early ascertainment of patients whose phenotype is often nonspecific.

AB - Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of disorders affecting children and adults. These rare disorders are often first suspected when increased basal ganglia iron is observed on brain magnetic resonance imaging. For the majority of NBIA disorders the genetic basis has been delineated, and clinical testing is available. The four most common NBIA disorders include pantothenate kinase-associated neurodegeneration (PKAN) due to mutations in PANK2, phospholipase A2-associated neurodegeneration caused by mutation in PLA2G6, mitochondrial membrane protein-associated neurodegeneration from mutations in C19orf12, and beta-propeller protein-associated neurodegeneration due to mutations in WDR45. The ultrarare NBIA disorders are caused by mutations in CoASY, ATP13A2, and FA2H (causing CoA synthase protein-associated neurodegeneration, Kufor–Rakeb disease, and fatty acid hydroxylase-associated neurodegeneration, respectively). Together, these genes account for disease in approximately 85% of patients diagnosed with an NBIA disorder. New NBIA genes are being recognized with increasing frequency as a result of whole-exome sequencing, which is also facilitating early ascertainment of patients whose phenotype is often nonspecific.

KW - BPAN

KW - INAD

KW - infantile neuroaxonal dystrophy

KW - MPAN

KW - NBIA

KW - neurodegeneration with brain iron accumulation

KW - pantothenate kinase

KW - PKAN

KW - PLAN

UR - http://www.scopus.com/inward/record.url?scp=85042075891&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85042075891&partnerID=8YFLogxK

U2 - 10.1016/B978-0-444-63233-3.00019-1

DO - 10.1016/B978-0-444-63233-3.00019-1

M3 - Chapter

C2 - 29325618

AN - SCOPUS:85042075891

T3 - Handbook of Clinical Neurology

SP - 293

EP - 305

BT - Handbook of Clinical Neurology

PB - Elsevier B.V.

ER -