Figure 5.

Severe involvement of peripheral myelinated axons in Patient 3 with complete lack of Nfasc155 expression at paranodes. Confocal images of cutaneous innervation from hairy and glabrous skin (thigh and fingertip) of the patient compared to a control showing quite preserved unmyelinated fibres in the epidermis (A and A1) and around autonomic annexes (see arrector pili muscle, arrowheads in C); severe loss of myelinated fibres with evidence in a nerve fascicle of few segments with severe myelin abnormalities in the distal site (leg) (B and B1); more preserved myelinated fibres with evidence around a hair follicle of several myelinated fibres showing loss of myelin in their distal segments in the more proximal site (thigh) (C, arrowheads in C1); loss of mechanoreceptors and myelinated fibres (compared to the control in E and E1) and morphological abnormalities of myelinated fibres with tracts of demyelination in the fingertip (D, arrowheads in D1) (compared to the control in E and E1). Scale bar = 100 µm in A, A1, C, C1, D, D1, E, E1 and 30 µm in B and B1.