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. 2022 Jan 25;8(1):e652. doi: 10.1212/NXG.0000000000000652

Figure 1. Genetic Analysis, Imaging and Histopathology of Family With FCDIIA.

Figure 1

(A) Pedigree of family and segregation of NPRL3 and WNT2 pathogenic variants. The NPRL3 mutant allele was detected in both blood and brain samples for brothers II.2 and II.3. No DNA was available from their sister (II.1). (B–D) Preoperative MRI scans (right is on the reader’s left). (B and C) MRI from II.2 showing an abnormal longitudinally oriented region of gray matter with blurred gray-white boundaries in the right posteromesial frontal region (arrows). (D) MRI from II.3 shows a globular region of abnormal gray matter in the left anteromesial frontal region (arrows). (E–J) Histopathology images showing disorganized gray matter and dysmorphic neurons for II.2 (panels E, G, and I) and II.3 (panels F, H, and J). (E and F) Phosporylated neurofilament staining of dysmorphic neurons. (G and H) Hemotoxylin and eosin staining showing dysmorphic neurons. (I and J) NeuN staining showing dyslamination. Magnification of 400× (E-H) or 40× (I and J); scale bars represent 20 µm (F), 100 µm (G and H), 1 mm (I), and 0.5 mm (J). FCDIIA = focal cortical dysplasia type IIA.