PMID- 18458920
OWN - NLM
STAT- MEDLINE
DCOM- 20081209
LR  - 20211203
IS  - 1432-0533 (Electronic)
IS  - 0001-6322 (Linking)
VI  - 116
IP  - 4
DP  - 2008 Oct
TI  - Aristaless-related homeobox gene disruption leads to abnormal distribution of 
      GABAergic interneurons in human neocortex: evidence based on a case of X-linked 
      lissencephaly with abnormal genitalia (XLAG).
PG  - 453-62
LID - 10.1007/s00401-008-0382-2 [doi]
AB  - X-linked lissencephaly with abnormal genitalia (XLAG) is a rare disorder caused 
      by mutations in the aristaless-related homeobox (ARX) gene, located on Xp22.13. 
      Arx-null mice show loss of tangential migration of GABAergic interneurons, 
      presumably being related to caudal ganglionic eminence tangential migration. In 
      the present study, we investigated a subpopulation of GABAergic interneurons in 
      the brain of an infant with XLAG, who had a novel nonsense mutation of the ARX 
      gene, compared with those of age-matched normal controls and Miller-Dieker 
      syndrome. We performed immunocytochemistry for interneuron and migration markers. 
      We found that glutamic acid decarboxylase (GAD)- and calretinin (CR)-containing 
      cells were significantly reduced in the neocortex and located in the white matter 
      and neocortical subventricular zone, while neuropeptide Y- or 
      cholecystokinin-containing cells were normally distributed. Moreover, in the 
      neocortical subventricular region, the GAD- and CR-containing cells expressed the 
      radial migration marker Mash-1 as well as nestin. Our findings suggest that ARX 
      protein controls not only the tangential migration of GABAergic interneurons from 
      the ganglionic eminence, but also may serve to induce radial migration from the 
      neocortical subventricular zone.
FAU - Okazaki, Shin
AU  - Okazaki S
AD  - Department of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan.
FAU - Ohsawa, Maki
AU  - Ohsawa M
FAU - Kuki, Ichiro
AU  - Kuki I
FAU - Kawawaki, Hisashi
AU  - Kawawaki H
FAU - Koriyama, Takeshi
AU  - Koriyama T
FAU - Ri, Shingou
AU  - Ri S
FAU - Ichiba, Hiroyuki
AU  - Ichiba H
FAU - Hai, Eishu
AU  - Hai E
FAU - Inoue, Takeshi
AU  - Inoue T
FAU - Nakamura, Hiroaki
AU  - Nakamura H
FAU - Goto, Yu-Ichi
AU  - Goto Y
FAU - Tomiwa, Kiyotaka
AU  - Tomiwa K
FAU - Yamano, Tsunekazu
AU  - Yamano T
FAU - Kitamura, Kunio
AU  - Kitamura K
FAU - Itoh, Masayuki
AU  - Itoh M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20080506
PL  - Germany
TA  - Acta Neuropathol
JT  - Acta neuropathologica
JID - 0412041
RN  - 0 (ARX protein, human)
RN  - 0 (CALB2 protein, human)
RN  - 0 (Calb2 protein, mouse)
RN  - 0 (Calbindin 2)
RN  - 0 (Dcx protein, mouse)
RN  - 0 (Doublecortin Protein)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Neuropeptide Y)
RN  - 0 (S100 Calcium Binding Protein G)
RN  - 0 (Transcription Factors)
RN  - 56-12-2 (gamma-Aminobutyric Acid)
RN  - 9011-97-6 (Cholecystokinin)
RN  - EC 4.1.1.15 (Glutamate Decarboxylase)
SB  - IM
MH  - Adult
MH  - Amino Acid Sequence
MH  - Calbindin 2
MH  - Cell Movement
MH  - Cholecystokinin/metabolism
MH  - Classical Lissencephalies and Subcortical Band 
      Heterotopias/diagnosis/*genetics/*pathology
MH  - Doublecortin Protein
MH  - Female
MH  - Genitalia, Male/*abnormalities
MH  - Glutamate Decarboxylase/metabolism
MH  - Homeodomain Proteins/*genetics/metabolism
MH  - Humans
MH  - Infant
MH  - Interneurons/metabolism/*pathology
MH  - Male
MH  - Molecular Sequence Data
MH  - Mutation/genetics
MH  - Neocortex/metabolism/*pathology
MH  - Neuropeptide Y/metabolism
MH  - Pedigree
MH  - S100 Calcium Binding Protein G/metabolism
MH  - Transcription Factors/*genetics/metabolism
MH  - gamma-Aminobutyric Acid/*metabolism
EDAT- 2008/05/07 09:00
MHDA- 2008/12/17 09:00
CRDT- 2008/05/07 09:00
PHST- 2007/12/28 00:00 [received]
PHST- 2008/04/19 00:00 [accepted]
PHST- 2008/04/06 00:00 [revised]
PHST- 2008/05/07 09:00 [pubmed]
PHST- 2008/12/17 09:00 [medline]
PHST- 2008/05/07 09:00 [entrez]
AID - 10.1007/s00401-008-0382-2 [doi]
PST - ppublish
SO  - Acta Neuropathol. 2008 Oct;116(4):453-62. doi: 10.1007/s00401-008-0382-2. Epub 
      2008 May 6.