Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: Further delineation of a cobblestone-like phenotype

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

Research output: Contribution to journalArticle

11 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)77-83
Number of pages7
JournalNeurogenetics
Volume14
Issue number1
DOIs
Publication statusPublished - Feb 2013

Fingerprint

Diffusion Tensor Imaging
Magnetic Resonance Imaging
Phenotype
Mutation
Group II Malformations of Cortical Development
Malformations of Cortical Development
Cerebellar Cortex
Pons
Corpus Callosum
Neuroimaging
Cysts
Brain
Bilateral Frontoparietal Polymicrogyria

Keywords

  • Diffusion tensor imaging
  • GPR56
  • Magnetic resonance
  • Polymicrogyria

ASJC Scopus subject areas

  • Genetics(clinical)
  • Cellular and Molecular Neuroscience
  • Genetics

Cite this

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations : Further delineation of a cobblestone-like phenotype. / Quattrocchi, Carlo C.; Zanni, Ginevra; Napolitano, Antonio; Longo, Daniela; Cordelli, Duccio Maria; Barresi, Sabina; Randisi, Francesco; Valente, Enza Maria; Verdolotti, Tommaso; Genovese, Elisabetta; Specchio, Nicola; Vitiello, Giuseppina; Spiegel, Ronen; Bertini, Enrico; Bernardi, Bruno.

In: Neurogenetics, Vol. 14, No. 1, 02.2013, p. 77-83.

Research output: Contribution to journalArticle

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