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. Author manuscript; available in PMC: 2021 Aug 18.
Published in final edited form as: Neuron. 2020 Nov 26;109(3):448–460.e4. doi: 10.1016/j.neuron.2020.11.005

Figure 4. Neuropathologic changes observed in an ALS patient carrying a full-penetrance pathogenic HTT repeat expansion (Patient #8).

Figure 4.

(A) A coronal section of the fresh brain showing that the caudate, putamen, and globus pallidus was intact with no evidence of atrophy. (B) Luxol fast blue/hematoxylin and eosin staining of the caudate nucleus showed no neuronal loss or gliosis. (C) Ubiquitin immunostaining of the caudate nucleus showed extranuclear aggregates (arrow) and rare intranuclear inclusions (arrowhead). (D-E) Immunohistochemistry for polyglutamine expansions showed occasional extranuclear inclusions within the caudate nucleus (D) and the peri-Rolandic cortex (E, arrows). (F) There was severe motor neuron loss within the anterior horn of the spinal cord (Luxol fast blue/hematoxylin and eosin). (Inset) A remaining motor neuron with a TDP-43 cytoplasmic inclusion. Scale bars: B: 50 microns, C-D: 20 microns, and F: 100 microns.