Show Summary Details
Page of

GPR56 and Bilateral Frontoparietal Polymicrogyria 

GPR56 and Bilateral Frontoparietal Polymicrogyria
Chapter:
GPR56 and Bilateral Frontoparietal Polymicrogyria
Author(s):

Xianhua Piao

DOI:
10.1093/med/9780199934522.003.0182
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 28 July 2021

Polymicrogyria is a developmental cortical malformation in which the brain surface is irregular and the normally convoluted gyri are replaced by numerous (poly) and noticeably smaller (micro) gyri. One type of autosomal recessively inherited polymicrogyria is known as bilateral frontoparietal polymicrogyria (BFPP). Individuals with BFPP suffer from intellectual and developmental disabilities, motor developmental delay, seizures, dysconjugate gaze, and clumsy movement. Magnetic resonance imaging (MRI) of BFPP brains demonstrates symmetric polymicrogyria with a decreasing anterior-to-posterior gradient of involvement, as well as ventriculomegaly, bilateral white matter signal changes, and brain stem and cerebellar hypoplasia. The BFPP locus was mapped to chromosome 16q12-21 and the causative gene is GPR56, a member of the adhesion G protein-coupled receptor (GPCRs) family. The diagnosis of BFPP is established on the basis of clinical presentation, brain MRI findings, and genetic testing. Treatment consists of supportive measures and seizure management, with a focus on quality of life.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.