Article
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.
Acta neuropathologica - 1 Feb 2011
Friocourt Gaëlle, Marcorelles Pascale, Saugier-Veber Pascale, Quille Marie-Lise, Marret Stephane, Laquerrière Annie
Abstract excerpt
Type I lissencephaly or agyria-pachygyria is a rare developmental disorder which results from a defect of neuronal migration. It is characterized by the absence of gyri and a thickening of the cerebral cortex and can be associated with other brain and visceral anomalies. Since the discovery of the first genetic cause (deletion of chromosome 17p13.3), six additional genes have been found to be responsible for...
Topics
- 1-Alkyl-2-acetylglycerophosphocholine Esterase
- Brain
- Cell Cycle Proteins
- Cell Movement
- Cell Proliferation
- Classical Lissencephalies and Subcortical Band Heterotopias
- Cytoskeleton
- Diagnostic Imaging
- Doublecortin Domain Proteins