Figure (E)F-1 Immunohistochemistry of peripheral nerves
A. Cross section of peripheral nerve, P0 protein immunohistochemical staining, shows clefts separating the myelin sheath (arrows) and dark granular, laminar deposits (arrowheads) arranged in a circumferential and curvilinear distribution similar to the distribution of granular osmiophilic deposits on electron microscopy. (400x original magnification). B. Dark granular, laminar deposits (arrowheads) along the edge of the fissured intramyelinic space are seen on cross-sectioned peripheral nerve immunostained with P0 antibody. Inset (In) shows the normal P0 cross sectional staining characteristics of a control nerve (400x original magnification). C. P0 immunostained longitudinal section of peripheral nerve with myelin ovoids (arrowheads) and vacuolar disruption of myelin sheath associated with dark granular material (200x original magnification). D. P0 immunostained longitudinal section of normal peripheral nerve control with homogenous staining of myelin sheath (400x original magnification). E. MAG immunostained longitudinal section of patient peripheral nerve with the normal abaxonal staining pattern (white arrowhead) in most of the peripheral nerves. Some nerves have aberrant MAG immunostaining with dark diffuse staining and vacuolar disruptions within the myelin sheath (arrowheads). The arrows indicate the locations of the Schmidt-Lantermann incisures (400x original magnification).
Figure (E)F-2Analysis of lipids in sural nerve biopsies.
A. High performance thin layer chromatography (HPTLC) of the two lipid fractions separated on Bond-Elut C18 columns. One mg tissue equivalent has been spotted on each lane. Gangliosides, present in the acidic fraction, are too miniscule to be detectable on this plate. Abbreviations: Chol, unesterified cholesterol; GalCer, galactocerebrosides; PE, ethanolamine phosphoglycerides; Sulf, sulfatides; PC, choline phosphoglycerides; PS, serine phosphoglycerides; Sph, sphingomyelin. B. HPTLC of the non-acidic fraction (1 mg tissue equivalent spotted) in a sequential double solvent to allow resolution of cholesteryl esters (CE). C. HPTLC separation of gangliosides in control 1 and patient 1 (10 mg tissue equivalent spotted). The reference lane (Ref) contains a mixture of brain gangliosides.