Brain edema with clasmatodendrosis complicating ataxia telangiectasia.

 2017 Aug;39(7):629-632. doi: 10.1016/j.braindev.2017.02.007. Epub 2017 Mar 25.
Shimoda K1, Mimaki M2, Fujino S2, Takeuchi M2, Hino R3, Uozaki H4, Hayashi M5, Oka A2, Mizuguchi M6.

Author information

1
Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan. Electronic address: konomi-@mbb.nifty.ne.jp.
2
Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan.
3
Department of Pathology, Graduate School of Medicine, The University of Tokyo, Japan.
4
Department of Pathology, Graduate School of Medicine, The University of Tokyo, Japan; Department of Pathology, Graduate School of Medicine, The University of Teikyo, Japan.
5
Department of Brain Development and Neural Regeneration, Tokyo Metropolitan Institute of Medical Science, Japan.
6
Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Japan.

Abstract

Ataxia-telangiectasia is a chronic progressive disorder affecting the nervous and immune systems, caused by a genetic defect in the ATM protein. Clasmatodendrosis, a distinct form of astroglial death, has rarely been reported in ataxia-telangiectasia. Neuropathology of our patient disclosed diffuse edema of the cerebral and cerebellar white matter with prominent clasmatodendrosis, implicating ATM in the regulation of astroglial cell death.

KEYWORDS:

Ataxia-telangiectasia; Clasmatodendrosis; NF-kappa B; Tumor suppressor protein p53

PMID:
 
28351596
 
DOI:
 
10.1016/j.braindev.2017.02.007
[Indexed for MEDLINE]