PMID- 21496576
OWN - NLM
STAT- MEDLINE
DCOM- 20110712
LR  - 20220129
IS  - 0072-9752 (Print)
IS  - 0072-9752 (Linking)
VI  - 100
DP  - 2011
TI  - Neurodegeneration with brain iron accumulation.
PG  - 161-72
LID - 10.1016/B978-0-444-52014-2.00009-4 [doi]
AB  - Neurodegenerative disorders with brain iron accumulation (NBIA) are a clinically 
      and genetically heterogeneous group of conditions in which there is 
      neurodegeneration accompanied by elevated levels of brain iron. NBIA is 
      frequently of genetic etiology, but may be secondary to an acquired systemic or 
      neurological disease. Mutations in the ferritin light chain cause an adult-onset 
      autosomal-dominant choreiform movement disorder termed neuroferritinopathy. 
      Homozygous mutations in the ceruloplasmin gene cause aceruloplasminemia, which is 
      characterized by the triad of diabetes, retinopathy, and a neurological disorder 
      in mid adulthood. Mutations in pantothenate kinase 2 (PANK2) and phospholipase A2 
      (PLA2G6) cause recessive, childhood-onset extrapyramidal disorders termed 
      pantothenate kinase-associated neurodegeneration (PKAN) and infantile neuroaxonal 
      dystrophy (INAD), respectively. There is considerable phenotypic overlap between 
      these conditions. The most useful investigation in suspected NBIA is brain 
      magnetic resonance imaging, which can identify pathological iron deposition and 
      distinguish between genotypes. Iron depletion therapy has been demonstrated to be 
      successful in aceruloplasminemia, but not neuroferritinopathy, PKAN, or INAD. The 
      presentation of NBIA overlaps with the more common adult movement disorders and 
      pediatric neurometabolic conditions, and a high index of suspicion is required to 
      make a correct diagnosis.
CI  - Copyright (c) 2011 Elsevier B.V. All rights reserved.
FAU - McNeill, Alisdair
AU  - McNeill A
AD  - Department of Clinical Neurosciences, UCL Institute of Neurology, London, UK.
FAU - Chinnery, Patrick F
AU  - Chinnery PF
LA  - eng
GR  - 084980/Wellcome Trust/United Kingdom
GR  - G0601943/MRC_/Medical Research Council/United Kingdom
PT  - Journal Article
PT  - Review
PL  - Netherlands
TA  - Handb Clin Neurol
JT  - Handbook of clinical neurology
JID - 0166161
RN  - E1UOL152H7 (Iron)
RN  - EC 1.16.3.1 (Ceruloplasmin)
RN  - Familial apoceruloplasmin deficiency
RN  - Neuroferritinopathy
SB  - IM
MH  - Brain/*metabolism/pathology
MH  - Ceruloplasmin/deficiency/genetics/metabolism
MH  - Humans
MH  - Iron/*metabolism
MH  - Iron Metabolism Disorders/diagnosis/genetics/metabolism
MH  - Magnetic Resonance Imaging/methods
MH  - Neuroaxonal Dystrophies/diagnosis/genetics/metabolism
MH  - Neurodegenerative Diseases/diagnosis/genetics/metabolism/*pathology
MH  - Pantothenate Kinase-Associated Neurodegeneration/diagnosis/genetics/metabolism
EDAT- 2011/04/19 06:00
MHDA- 2011/07/13 06:00
CRDT- 2011/04/19 06:00
PHST- 2011/04/19 06:00 [entrez]
PHST- 2011/04/19 06:00 [pubmed]
PHST- 2011/07/13 06:00 [medline]
AID - B978-0-444-52014-2.00009-4 [pii]
AID - 10.1016/B978-0-444-52014-2.00009-4 [doi]
PST - ppublish
SO  - Handb Clin Neurol. 2011;100:161-72. doi: 10.1016/B978-0-444-52014-2.00009-4.