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.
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Acknowledgments
We are grateful to the participants and their families. This work was supported by a grant from Telethon Italy (project GGP08145) and the Italian Ministry of Health.
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The methodology used in this study complies with the current laws of the country in which they were performed.
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The authors declare that they have no conflict of interest.
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Carlo C. Quattrocchi and Ginevra Zanni equally contributed to this work.
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Quattrocchi, C.C., Zanni, G., Napolitano, A. et al. Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. Neurogenetics 14, 77–83 (2013). https://doi.org/10.1007/s10048-012-0352-7
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DOI: https://doi.org/10.1007/s10048-012-0352-7