PMID- 18981035
OWN - NLM
STAT- MEDLINE
DCOM- 20090317
LR  - 20220419
IS  - 1468-6244 (Electronic)
IS  - 0022-2593 (Print)
IS  - 0022-2593 (Linking)
VI  - 46
IP  - 2
DP  - 2009 Feb
TI  - Clinical and genetic delineation of neurodegeneration with brain iron 
      accumulation.
PG  - 73-80
LID - 10.1136/jmg.2008.061929 [doi]
AB  - Neurodegeneration with brain iron accumulation (NBIA) describes a group of 
      progressive neurodegenerative disorders characterised by high brain iron and the 
      presence of axonal spheroids, usually limited to the central nervous system. 
      Mutations in the PANK2 gene account for the majority of NBIA cases and cause an 
      autosomal recessive inborn error of coenzyme A metabolism called pantothenate 
      kinase associated neurodegeneration (PKAN). More recently, it was found that 
      mutations in the PLA2G6 gene cause both infantile neuroaxonal dystrophy (INAD) 
      and, more rarely, an atypical neuroaxonal dystrophy that overlaps clinically with 
      other forms of NBIA. High brain iron is also present in a portion of these cases. 
      Clinical assessment, neuroimaging, and molecular genetic testing all play a role 
      in guiding the diagnostic evaluation and treatment of NBIA.
FAU - Gregory, A
AU  - Gregory A
AD  - Molecular and Medical Genetics, Oregon Health & Science University, 3181 SW Sam 
      Jackson Park Road, Portland, OR 97239, USA. gregorya@ohsu.edu
FAU - Polster, B J
AU  - Polster BJ
FAU - Hayflick, S J
AU  - Hayflick SJ
LA  - eng
GR  - R01 HD050832-02/HD/NICHD NIH HHS/United States
GR  - R01 HD 050832/HD/NICHD NIH HHS/United States
GR  - M01 RR000334/RR/NCRR NIH HHS/United States
GR  - R01 EY012353/EY/NEI NIH HHS/United States
GR  - R01 EY 12353/EY/NEI NIH HHS/United States
GR  - M01 RR 000334/RR/NCRR NIH HHS/United States
GR  - R01 EY012353-09/EY/NEI NIH HHS/United States
GR  - R01 HD050832/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20081103
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - E1UOL152H7 (Iron)
RN  - EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor))
RN  - EC 2.7.1.33 (pantothenate kinase)
SB  - IM
MH  - Brain/*metabolism/pathology
MH  - Humans
MH  - Iron/*metabolism
MH  - Neuroaxonal Dystrophies/genetics/metabolism/pathology
MH  - Neurodegenerative Diseases/*diagnosis/*genetics/pathology
MH  - Phenotype
MH  - Phosphotransferases (Alcohol Group Acceptor)/metabolism
PMC - PMC2675558
MID - NIHMS107481
EDAT- 2008/11/05 09:00
MHDA- 2009/03/18 09:00
PMCR- 2009/04/30
CRDT- 2008/11/05 09:00
PHST- 2008/11/05 09:00 [pubmed]
PHST- 2009/03/18 09:00 [medline]
PHST- 2008/11/05 09:00 [entrez]
PHST- 2009/04/30 00:00 [pmc-release]
AID - jmg.2008.061929 [pii]
AID - 10.1136/jmg.2008.061929 [doi]
PST - ppublish
SO  - J Med Genet. 2009 Feb;46(2):73-80. doi: 10.1136/jmg.2008.061929. Epub 2008 Nov 3.