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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• 作者：Carlo C. Quattrocchi (1)
  Ginevra Zanni (2)
  Antonio Napolitano (3)
  Daniela Longo (1)
  Duccio Maria Cordelli (4)
  Sabina Barresi (2)
  Francesco Randisi (1)
  Enza Maria Valente (5) (6) (7)
  Tommaso Verdolotti (1)
  Elisabetta Genovese (3)
  Nicola Specchio (6) (7)
  Giuseppina Vitiello (5)
  Ronen Spiegel (8)
  Enrico Bertini (2)
  Bruno Bernardi (1)
  
• 关键词：GPR56 ; Polymicrogyria ; Magnetic resonance ; Diffusion tensor imaging
• 刊名：neurogenetics
• 出版年：2013
• 出版时间：February 2013
• 年：2013
• 卷：14
• 期：1
• 页码：77-83
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• 作者单位：Carlo C. Quattrocchi (1)
  Ginevra Zanni (2)
  Antonio Napolitano (3)
  Daniela Longo (1)
  Duccio Maria Cordelli (4)
  Sabina Barresi (2)
  Francesco Randisi (1)
  Enza Maria Valente (5) (6) (7)
  Tommaso Verdolotti (1)
  Elisabetta Genovese (3)
  Nicola Specchio (6) (7)
  Giuseppina Vitiello (5)
  Ronen Spiegel (8)
  Enrico Bertini (2)
  Bruno Bernardi (1)
  
  1. Unit of Neuroradiology, Bambino Gesu鈥?Children鈥檚 Research Hospital IRCCS, Rome, Italy
  2. Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu鈥?Children鈥檚 Research Hospital IRCCS, Rome, Italy
  3. Department of Occupational Health and Safety, Medical Physics, Bambino Gesu鈥?Children鈥檚 Hospital, Rome, Italy
  4. Unit of Child Neuropsychiatry, Bologna University, Bologna, Italy
  5. Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Institute, San Giovanni Rotondo, Italy
  6. Department of Medical and Surgical Pediatric Sciences, University of Messina, Messina, Italy
  7. Unit of Neurology, Bambino Gesu鈥?Children鈥檚 Research Hospital IRCCS, Rome, Italy
  8. Department of Pediatrics, Ha鈥橢mek Medical Center, Afula and Rappaport School of Medicine, Haifa, Israel
  
• ISSN：1364-6753

文摘

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.