PMID- 31455510
OWN - NLM
STAT- MEDLINE
DCOM- 20200601
LR  - 20200601
IS  - 1872-7131 (Electronic)
IS  - 0387-7604 (Linking)
VI  - 42
IP  - 1
DP  - 2020 Jan
TI  - Inflammatory neuropathology of infantile Alexander disease: A case report.
PG  - 64-68
LID - S0387-7604(19)30299-2 [pii]
LID - 10.1016/j.braindev.2019.07.010 [doi]
AB  - BACKGROUND: Alexander disease (AxD) is a rare fatal leukodystrophy caused by a 
      dominant missense mutation in the glial fibrillary acidic protein. In a mouse 
      model of AxD, the pathological astrocyte causes a pronounced immune response. The 
      inflammatory environment in the brain might play an important role in the 
      neuronal dysfunction of AxD. CASE: A 3-month-old girl diagnosed with infantile 
      AxD presented with severe intractable seizures and a deteriorated neurological 
      state. Steroid pulse therapy was effective at preventing the epileptic activity 
      and progressive white matter abnormalities on magnetic resonance images, but the 
      effect was temporary. Levels of interleukin (IL)-6, IL-8, and macrophage 
      chemotactic protein 1 (MCP-1) in the cerebrospinal fluid were high at onset and 
      reduced transiently after steroid pulse therapy. DISCUSSION: These results 
      suggest that inflammatory responses of astrocyte and microglia can contribute to 
      the neuropathology of AxD. Robust immunomodulation that targets activated 
      astrocytes and microglia may be a novel therapeutic strategy to improve 
      neurological prognosis in AxD.
CI  - Copyright (c) 2019 The Japanese Society of Child Neurology. Published by Elsevier 
      B.V. All rights reserved.
FAU - Kora, Kengo
AU  - Kora K
AD  - Department of Pediatric Neurology, Hyogo Prefectural Amagasaki General Medical 
      Center, Japan.
FAU - Kato, Takeo
AU  - Kato T
AD  - Department of Pediatric Neurology, Hyogo Prefectural Amagasaki General Medical 
      Center, Japan. Electronic address: tkokt4819@gmail.com.
FAU - Ide, Minako
AU  - Ide M
AD  - Department of Pediatric Neurology, Hyogo Prefectural Amagasaki General Medical 
      Center, Japan.
FAU - Tanaka, Takayuki
AU  - Tanaka T
AD  - Department of Pediatrics, Graduate School of Medicine, Kyoto University, Japan.
FAU - Yoshida, Tomokatsu
AU  - Yoshida T
AD  - Department of Neurology, Graduate School of Medicine, Kyoto Prefectural 
      University of Medicine, Japan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20190824
PL  - Netherlands
TA  - Brain Dev
JT  - Brain & development
JID - 7909235
RN  - 0 (Adrenal Cortex Hormones)
RN  - 0 (Anti-Inflammatory Agents)
SB  - IM
MH  - Adrenal Cortex Hormones/therapeutic use
MH  - Alexander Disease/drug therapy/*pathology
MH  - Anti-Inflammatory Agents/therapeutic use
MH  - Brain/*pathology
MH  - Female
MH  - Humans
MH  - Infant
MH  - Inflammation/drug therapy/*pathology
OTO - NOTNLM
OT  - Alexander disease
OT  - Astrocyte
OT  - Macrophage chemotactic protein 1
OT  - Neuroinflammation
OT  - Steroid pulse therapy
EDAT- 2019/08/29 06:00
MHDA- 2020/06/02 06:00
CRDT- 2019/08/29 06:00
PHST- 2019/05/19 00:00 [received]
PHST- 2019/07/10 00:00 [revised]
PHST- 2019/07/29 00:00 [accepted]
PHST- 2019/08/29 06:00 [pubmed]
PHST- 2020/06/02 06:00 [medline]
PHST- 2019/08/29 06:00 [entrez]
AID - S0387-7604(19)30299-2 [pii]
AID - 10.1016/j.braindev.2019.07.010 [doi]
PST - ppublish
SO  - Brain Dev. 2020 Jan;42(1):64-68. doi: 10.1016/j.braindev.2019.07.010. Epub 2019 
      Aug 24.