Fig. 3: Neuropathology of SAL-345–015 who carried the STUB1 p.A46P variant. | Genetics in Medicine

Fig. 3: Neuropathology of SAL-345–015 who carried the STUB1 p.A46P variant.

From: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Fig. 3: Neuropathology of SAL-345–015 who carried the STUB1 p.A46P variant.

(a–d) Hematoxylin–eosin staining showing cerebellar changes. (a) Vermis showing the loss of Purkinje cells and prominent Bergmann glia. The Purkinje cell layer is indicated by an asterisk. Two empty baskets are shown by the arrowheads and prominent Bergmann glia by arrows. Scale bar = 50 µm. (b) Vermis showing the loss of granule neurons, responsible for the spongiotic aspect of the granular layer (e.g., in the region indicated by the arrows). Scale bar = 50 µm. (c) Cerebellar hemisphere, showing a pyknotic nucleus in a Purkinje cell (arrow). Scale bar = 20 µm. (d) Cerebellar hemisphere showing a “torpedo” (arrow) below the cell body of a Purkinje cell. Scale bar = 20 µm. (e, f) Hematein–eosin staining of the dentate nucleus and substantia nigra. (e) Dentate nucleus, showing numerous neurons visible (arrowheads). There is also evidence of astrogliosis (increased number of astrocytes with clear nucleus). Scale bar = 50 µm. (f) Substantia nigra, showing extraneuronal melanin pigments (arrows) and evidence of neuronal loss. Scale bar = 30 µm. (g, h) Hippocampus and neocortex. (g) AT8 tau immunohistochemistry showing two pretangles in the CA1 sector of the cornu ammonis. Scale bar = 30 µm. (h) Superior temporal gyrus (Brodmann area 22) showing normal numerical density of the neurons and type 2 Alzheimer gliosis: clear astrocytic nuclei are visible (arrow). Hematein–eosin stain. Scale bar = 30 µm.

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