PMID- 17254819
OWN - NLM
STAT- MEDLINE
DCOM- 20070717
LR  - 20161124
IS  - 1090-3798 (Print)
IS  - 1090-3798 (Linking)
VI  - 11
IP  - 3
DP  - 2007 May
TI  - Cerebellar atrophy without cerebellar cortex hyperintensity in infantile 
      neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.
PG  - 175-7
AB  - Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder 
      characterized by infantile onset and rapid progression of psychomotor regression 
      and hypotonia evolving into spasticity. The neuroradiologic hallmark of the 
      disease is represented by cerebellar atrophy and signal hyperintensity in the 
      cerebellar cortex on MR T2-weighted images. We report a 2-year-old boy with 
      psychomotor regression and hypotonia carrying a homozygous 5' splice site 
      mutation in PLA2G6 gene, whose brain MRI revealed cerebellar atrophy with normal 
      cerebellar cortex signal intensity. The absence of the signal hyperintensity of 
      the cerebellar cortex does not rule out the diagnosis of INAD.
FAU - Biancheri, Roberta
AU  - Biancheri R
AD  - Muscular and Neurodegenerative Disease Unit, University of Genova, Istituto G 
      Gaslini, Largo G Gaslini 5, Genova, Italy. roberta@biancheri.com
FAU - Rossi, Andrea
AU  - Rossi A
FAU - Alpigiani, Giannina
AU  - Alpigiani G
FAU - Filocamo, Mirella
AU  - Filocamo M
FAU - Gandolfo, Carlo
AU  - Gandolfo C
FAU - Lorini, Renata
AU  - Lorini R
FAU - Minetti, Carlo
AU  - Minetti C
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20070124
PL  - England
TA  - Eur J Paediatr Neurol
JT  - European journal of paediatric neurology : EJPN : official journal of the 
      European Paediatric Neurology Society
JID - 9715169
RN  - 0 (RNA Splice Sites)
RN  - EC 3.1.1.32 (Phospholipases A)
RN  - EC 3.1.1.4 (Group VI Phospholipases A2)
RN  - EC 3.1.1.4 (PLA2G6 protein, human)
SB  - IM
MH  - Atrophy
MH  - Cerebellum/*pathology
MH  - Child, Preschool
MH  - Group VI Phospholipases A2
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Mutation/*genetics
MH  - Neuroaxonal Dystrophies/*genetics/*pathology
MH  - Phospholipases A/*genetics
MH  - RNA Splice Sites/genetics
EDAT- 2007/01/27 09:00
MHDA- 2007/07/18 09:00
CRDT- 2007/01/27 09:00
PHST- 2006/09/21 00:00 [received]
PHST- 2006/11/29 00:00 [accepted]
PHST- 2007/01/27 09:00 [pubmed]
PHST- 2007/07/18 09:00 [medline]
PHST- 2007/01/27 09:00 [entrez]
AID - S1090-3798(06)00185-1 [pii]
AID - 10.1016/j.ejpn.2006.11.013 [doi]
PST - ppublish
SO  - Eur J Paediatr Neurol. 2007 May;11(3):175-7. doi: 10.1016/j.ejpn.2006.11.013. 
      Epub 2007 Jan 24.