Document Detail


Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.
MedLine Citation:
PMID:  23274687     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
GPR56-related bilateral frontoparietal polymicrogyria (BFPP) is a rare recessively inherited disorder of neuronal migration caused by mutations of GPR56. To better delineate the clinical, molecular, and neuroradiological phenotypes associated with BFPP, we performed conventional magnetic resonance imaging and diffusion tensor imaging studies in a series of prospectively enrolled patients carrying novel GPR56 mutations. All subjects with GPR56-related BFPP showed a characteristic morphological pattern, including abnormalities of the cerebellar cortex with cerebellar cysts located at the periphery, a mildly thick corpus callosum, and a flat pons. Significant alterations of myelination and white matter tract abnormalities were documented. The present study confirms the phenotypic overlap between GPR56-related brain dysgenesis and other cobblestone-like syndromes and illustrates the contribution of 3D neuroimaging in the characterization of malformations of cortical development.
Authors:
Carlo C Quattrocchi; Ginevra Zanni; Antonio Napolitano; Daniela Longo; Duccio Maria Cordelli; Sabina Barresi; Francesco Randisi; Enza Maria Valente; Tommaso Verdolotti; Elisabetta Genovese; Nicola Specchio; Giuseppina Vitiello; Ronen Spiegel; Enrico Bertini; Bruno Bernardi
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-12-30
Journal Detail:
Title:  Neurogenetics     Volume:  14     ISSN:  1364-6753     ISO Abbreviation:  Neurogenetics     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-02-12     Completed Date:  2013-08-05     Revised Date:  2014-03-19    
Medline Journal Info:
Nlm Unique ID:  9709714     Medline TA:  Neurogenetics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  77-83     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Brain / radiography*
Child, Preschool
Cobblestone Lissencephaly / genetics*,  radiography*
Cohort Studies
DNA Mutational Analysis
Diffusion Tensor Imaging
Female
Genetic Association Studies
Humans
Infant
Magnetic Resonance Imaging
Male
Mutation* / physiology
Phenotype
Receptors, G-Protein-Coupled / genetics*
Grant Support
ID/Acronym/Agency:
GGP08145//Telethon
Chemical
Reg. No./Substance:
0/GPR56 protein, human; 0/Receptors, G-Protein-Coupled

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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