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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond

Fig. 3

Tibial nerve pathology and necropsy findings. The tibial nerve was dissected down in an amputated leg of Case III-5 in Berciano et al. [21] and Case III-1 in Peeters et al. [10], when the patient was aged 39 years. Semithin transverse sections of the upper third (a) and the lower third (b) of the nerve showing loss of myelinated fibres, with an evident proximal-to-distal gradient in this fibre loss; note that the density of myelinated fibres is far lower than that of lumbar roots (see below). Several fibres contain thin myelinated sheaths in relation to axon diameter, a feature suggestive of remyelination. Note also clusters of regenerating fibres (arrows) (Toluidine blue, × 250 before reduction). The propositus died at age 32 years (Case III-7 in Berciano et al., [21], and Case III-4 in Peeters et al., [10]). Semithin sections of L5 ventral (c) and dorsal (d) roots showing that larger fibres are reduced (particularly in dorsal root), but smaller fibres are increased (for mophometry, see Berciano et al., [21]). Note the clusters of regenerating fibres (arrows) (Toluidine blue, × 240 before reduction). Adapted from Berciano et al. [21]

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