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. 2018 Sep 10;10(11):e9060. doi: 10.15252/emmm.201809060

Figure EV3. Neuropathology: Frontal lobe atrophy, corpus callosum hypoplasia and thalamic cavitation. The laminar distribution of neurons in cortical regions is intact, and mitochondrial OXPHOS expression is maintained throughout the frontal, parietal and occipital cortices.

Figure EV3

  • A
    Macroscopically, the frontal cortex was atrophic, while the corpus callosum was hypoplastic.
  • B
    There was microcavitation of the thalamus with microvascular proliferation, activated microglia and reactive gliosis, which was revealed with immunohistochemical staining for glial fibrillary acidic protein (PGFA). Scale bars: top panels = 500 μm, bottom left = 200 μm, bottom right = 100 μm.
  • C–F
    Mitochondrial respiratory chain protein expression is maintained in patient neurons within frontal (C), parietal (D) and occipital (E) cortices comparable with levels observed in control neurons (F), and there is only slight downregulation of NDUFS3 (i) expression, while expression in patient tissues of SDHA (ii), COXI (iii) and ATP5B (iv) is high. Scale bar = 100 μm.