PMID- 18443312
OWN - NLM
STAT- MEDLINE
DCOM- 20080523
LR  - 20211020
IS  - 1526-632X (Electronic)
IS  - 0028-3878 (Print)
IS  - 0028-3878 (Linking)
VI  - 70
IP  - 18
DP  - 2008 Apr 29
TI  - T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron 
      accumulation.
PG  - 1614-9
LID - 10.1212/01.wnl.0000310985.40011.d6 [doi]
AB  - BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) defines a group 
      of genetic disorders characterized by brain iron deposition and associated with 
      neuronal death. The known causes of NBIA include pantothenate kinase-associated 
      neurodegeneration (PKAN), neuroferritinopathy, infantile neuroaxonal dystrophy 
      (INAD), and aceruloplasminemia. OBJECTIVE: To define the radiologic features of 
      each NBIA subtype. METHODS: Brain MRIs from patients with molecularly confirmed 
      PKAN (26 cases), neuroferritinopathy (21 cases), INAD (four cases), and 
      aceruloplasminemia (10 cases) were analyzed blindly to delineate patterns of iron 
      deposition and neurodegeneration. RESULTS: In most cases of PKAN, abnormalities 
      were restricted to globus pallidus and substantia nigra, with 100% having an eye 
      of the tiger sign. In a minority of PKAN cases there was hypointensity of the 
      dentate nuclei (1/5 on T2* sequences, 2/26 on fast spin echo [FSE]). In INAD, 
      globus pallidus and substantia nigra were involved on T2* and FSE scans, with 
      dentate involvement only seen on T2*. By contrast, neuroferritinopathy had 
      consistent involvement of the dentate nuclei, globus pallidus, and putamen, with 
      confluent areas of hyperintensity due to probable cavitation, involving the 
      pallida and putamen in 52%, and a subset having lesions in caudate nuclei and 
      thalami. More uniform involvement of all basal ganglia and the thalami was 
      typical in aceruloplasminemia, but without cavitation. CONCLUSIONS: In the 
      majority of cases, different subtypes of neurodegeneration associated with brain 
      iron accumulation can be reliably distinguished with T2* and T2 fast spin echo 
      brain MRI, leading to accurate clinical and subsequent molecular diagnosis.
FAU - McNeill, A
AU  - McNeill A
AD  - Department of Neurology, Regional Neurosciences Centre, Newcastle upon Tyne 
      Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
FAU - Birchall, D
AU  - Birchall D
FAU - Hayflick, S J
AU  - Hayflick SJ
FAU - Gregory, A
AU  - Gregory A
FAU - Schenk, J F
AU  - Schenk JF
FAU - Zimmerman, E A
AU  - Zimmerman EA
FAU - Shang, H
AU  - Shang H
FAU - Miyajima, H
AU  - Miyajima H
FAU - Chinnery, P F
AU  - Chinnery PF
LA  - eng
GR  - R01 HD050832-01A1/HD/NICHD NIH HHS/United States
GR  - UL1 RR024140 01/RR/NCRR NIH HHS/United States
GR  - R01 EY012353/EY/NEI 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  - Multicenter Study
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
RN  - 0 (FTL protein, human)
RN  - 9007-73-2 (Ferritins)
RN  - 9013-31-4 (Apoferritins)
RN  - E1UOL152H7 (Iron)
RN  - EC 1.16.3.1 (Ceruloplasmin)
RN  - EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor))
RN  - EC 2.7.1.33 (pantothenate kinase)
RN  - EC 3.1.1.4 (Group VI Phospholipases A2)
RN  - EC 3.1.1.4 (PLA2G6 protein, human)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Apoferritins
MH  - *Brain Chemistry
MH  - Ceruloplasmin/deficiency
MH  - Child
MH  - Child, Preschool
MH  - Diagnosis, Differential
MH  - Europe
MH  - Female
MH  - Ferritins/genetics
MH  - Group VI Phospholipases A2/deficiency/genetics
MH  - Humans
MH  - Iron/*analysis
MH  - Magnetic Resonance Imaging/*methods
MH  - Male
MH  - Middle Aged
MH  - Neuroaxonal Dystrophies/diagnosis/genetics/metabolism/pathology
MH  - Neurodegenerative Diseases/*diagnosis/genetics/metabolism/pathology
MH  - North America
MH  - Phosphotransferases (Alcohol Group Acceptor)/deficiency/genetics/metabolism
MH  - Retrospective Studies
PMC - PMC2706154
MID - NIHMS107479
EDAT- 2008/04/30 09:00
MHDA- 2008/05/24 09:00
PMCR- 2009/04/29
CRDT- 2008/04/30 09:00
PHST- 2008/04/30 09:00 [pubmed]
PHST- 2008/05/24 09:00 [medline]
PHST- 2008/04/30 09:00 [entrez]
PHST- 2009/04/29 00:00 [pmc-release]
AID - 70/18/1614 [pii]
AID - znl01808001614 [pii]
AID - 10.1212/01.wnl.0000310985.40011.d6 [doi]
PST - ppublish
SO  - Neurology. 2008 Apr 29;70(18):1614-9. doi: 10.1212/01.wnl.0000310985.40011.d6.