Background And Purpose: Pathogenic variants in the gene cause a distinctive arterial phenotype that has recently been described to be associated with brain malformation. Our objective was to further characterize gyral abnormalities in patients with pathogenic variants as per the 2020 consensus recommendations for the definition and classification of malformations of cortical development.
Materials And Methods: We performed a retrospective, multicentric review of patients with proved pathogenic variants, searching for the presence of malformations of cortical development. A consensus read was performed for all patients, and the type and location of cortical malformation were noted in each. The presence of the typical arterial phenotype as well as demographic and relevant clinical data was obtained.
Results: We included 13 patients with pathogenic variants (Arg179His mutation, = 11, and Arg179Cys mutation, = 2). Ninety-two percent (12/13) of patients had peri-Sylvian dysgyria, 77% (10/13) had frontal dysgyria, and 15% (2/13) had generalized dysgyria. The peri-Sylvian location was involved in all patients with dysgyria (12/12). All patients with dysgyria had a characteristic arterial phenotype described in pathogenic variants. One patient did not have dysgyria or the characteristic arterial phenotype.
Conclusions: Dysgyria is common in patients with pathogenic variants, with a peri-Sylvian and frontal predominance, and was seen in all our patients who also had the typical arterial phenotype.
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| http://dx.doi.org/10.3174/ajnr.A7364 | DOI Listing |
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