title: Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.
abstract: 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.affiliation: Unit of Neuroradiology, Bambino Gesu' Children's Research Hospital IRCCS, Rome, Italy.
authors.forename: Carlo C
authors.initials: CC
authors.lastname: Quattrocchi
authors.forename: Ginevra
authors.initials: G
authors.lastname: Zanni
authors.forename: Antonio
authors.initials: A
authors.lastname: Napolitano
authors.forename: Daniela
authors.initials: D
authors.lastname: Longo
authors.forename: Duccio Maria
authors.initials: DM
authors.lastname: Cordelli
authors.forename: Sabina
authors.initials: S
authors.lastname: Barresi
authors.forename: Francesco
authors.initials: F
authors.lastname: Randisi
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
authors.forename: Tommaso
authors.initials: T
authors.lastname: Verdolotti
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Genovese
authors.forename: Nicola
authors.initials: N
authors.lastname: Specchio
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Vitiello
authors.forename: Ronen
authors.initials: R
authors.lastname: Spiegel
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Bruno
authors.initials: B
authors.lastname: Bernardi
mesh_terms: D001483:Base Sequence; D001921:Brain / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D054222:Cobblestone Lissencephaly / Q000000981:diagnostic imaging* / Q000235:genetics*; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D056324:Diffusion Tensor Imaging; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000502:physiology; D010641:Phenotype; D011859:Radiography; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*
chemical_list: C118925:ADGRG1 protein, human; D043562:Receptors, G-Protein-Coupled