GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

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Bahi-Buisson, Nadia | Poirier, Karine | Boddaert, Nathalie | Fallet-Bianco, Catherine | Specchio, Nicola | Bertini, Enrico | Caglayan, Okay | Lascelles, Karine | Elie, Caroline | Rambaud, Jérôme | Baulac, Michel | An, Isabelle | Dias, Patricia | Des Portes, Vincent | Moutard, Marie, Laure | Soufflet, Christine | Maleh, Monique, El | Beldjord, Chérif | Villard, Laurent | Chelly, Jamel

Edité par CCSD ; Oxford University Press -

International audience. GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities and cerebellar hypoplasia. Recent investigations of a GPR56 knockout mouse model suggest that bilateral bifrontoparietal polymicrogyria shares some features of the cobblestone brain malformation and demonstrate that loss of GPR56 leads to a dysregulation of the maintenance of the pial basement membrane integrity in the forebrain and the rostral cerebellum. In light of these findings and other data in the literature, this study aimed to refine the clinical features with the first description of a foetopathological case and to define the range of cobblestone-like features in GPR56 bilateral bifrontoparietal polymicrogyria in a sample of 14 patients.

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