Figure 2
- ID
- ZDB-FIG-240317-2
- Publication
- Brugger et al., 2024 - Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
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Macroscopic and microscopic alterations in individual A2 deceased at the age of 3 months (A) Lateral view on the formalin-fixed autopsy brain. (B) Coronally cut slice of the formalin-fixed brain at the level of thalamus/hippocampus showing a massive reduction of the subcortical white matter and a severe atrophy of the corpus callosum. The gyri appear coarse. (C–H) Frontal subcortical white matter at level of anterior cingulate gyrus; (C) age-matched control. (D–H) Consecutive sections in individual A2. (C and D) Hematoxylin-eosin (HE) stains. Compared to the age-matched control case (C), the astrocytes of individual A2 (D) are reactively altered showing enlarged eosinophilic cell bodies (inset displays zoomed marked area). The number of astrocytes is also increased in individual A2. (E) With an antibody against human leukocyte antigen-DR isotype (HLA-DR), numerous activated microglial cells (brown color) are visualized as a sign of a resorptive process. (F) The immunohistochemical detection of glial fibrillary acidic protein (GFAP; brown color) illustrates the large number of reactively changed astrocytes. (G) Myelin is dramatically reduced (blue color) in a luxol fast blue-periodic acid Schiff (LFB-PAS) stain, while in (H) the axons are relatively well preserved as demonstrated by immunohistochemistry for neurofilament (NF; brown color). Insets in (G) and (H) show overviews of the slides, rectangles mark zoomed areas. ∗Highlights the same blood vessel in consecutive tissue sections. Scale bars in (C)–(H) correspond to 50 μm. |