Global InformationBilateral frontoparietal polymicrogyria information
| Bilateral frontalparietal polymicrogyria | |
|---|---|
| Other names | BFPP |
Bilateral frontoparietal polymicrogyria is a genetic disorder with autosomal recessive inheritance that causes a cortical malformation. Our brain has folds in the cortex to increase surface area called gyri and patients with polymicrogyria have an increase number of folds and smaller folds than usual.[1] Polymicrogyria is defined as a cerebral malformation of cortical development in which the normal gyral pattern of the surface of the brain is replaced by an excessive number of small, fused gyri separated by shallow sulci and abnormal cortical lamination. From ongoing research, mutation in GPR56, a member of the adhesion G protein-coupled receptor (GPCR) family, results in BFPP. These mutations are located in different regions of the protein without any evidence of a relationship between the position of the mutation and phenotypic severity.[2] It is also found that GPR56 plays a role in cortical pattering.[3]
- ^ "Bilateral Frontoparietal Polymicrogyria (BFPP)." Welcome to the Research View. N.p., n.d. Web. 05 Nov. 2012. <http://www.neuroscienceandgenetics.it/syndrome/bilateral-frontoparietal-polymicrogyria-bfpp>.
- ^ Bahi-Buisson, N., K. Poirier, N. Boddaert, C. Fallet-Bianco, N. Specchio, E. Bertini, O. Caglayan, K. Lascelles, C. Elie, J. Rambaud, M. Baulac, I. An, P. Dias, V. Des Portes, M. L. Moutard, C. Soufflet, M. El Maleh, C. Beldjord, L. Villard, and J. Chelly. "GPR56-related Bilateral Frontoparietal Polymicrogyria: Further Evidence for an Overlap with the Cobblestone Complex." Brain 133.11 (2010): 3194-209. Print
- ^ Piao, Xianhua, and Christopher A. Walsh. "A Novel Signaling Mechanism in Brain Development." Pediatric Research 56.3 (2004): 309-10. Print.