| Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. | |
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MedLine Citation:
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PMID: 23274687 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: JOURNAL ARTICLE Date: 2012-12-30 |
Journal Detail:
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Title: Neurogenetics Volume: - ISSN: 1364-6753 ISO Abbreviation: Neurogenetics Publication Date: 2012 Dec |
Date Detail:
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Created Date: 2012-12-31 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9709714 Medline TA: Neurogenetics Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Unit of Neuroradiology, Bambino Gesu' Children's Research Hospital IRCCS, Rome, Italy. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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