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Fig. 2 | Acta Neuropathologica Communications

Fig. 2

From: De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy

Fig. 2

Sural nerve biopsy from Patient 1. Toluidine blue stained sections of the nerve (a,b) in transverse orientation highlight the moderate to marked loss of larger myelinated axons. There was an absence of inflammation and no onion bulbs. The epineurium/perineurium were unremarkable. Neurofilament immunohistochemistry highlights the loss of larger axons and the relative preservation of the smaller non-myelinated fibres. (c) S100 IHC stain revealed mildly reduced Schwann cell nuclei. (d) Ultrastructural examination by transmission electron microscopy (e,f) highlights the paucity of myelinated axons, endoneurial collagenosis, numerous bands of Bugner and atrophy of one residual myelinated fibre (f)

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