Ultrastructural Immunocytochemical Abnormalities of Peripheral Myelin Proteins in Hereditary Sensory‐Motor Neuropathies: 12 cases

Abstract

Hereditary sensorimotor neuropathies form a heterogeneous group of genetically determined diseases, of which Charcot-Marie-Tooth (CMT) disease is the most common. In order to establish relations between genotype and the expression of peripheral myelin proteins, we carried out a quantitative study by ultrastructural immunocytochemistry of several myelin proteins (PMP22, P0, MBP) on sural nerve biopsy samples from 12 unrelated CMT patients. The diagnosis of CMT was based on the clinical, electrophysiological, and histological findings along with those of molecular biological studies. CMT X diagnoses were not included in this study. The expression of myelin proteins was well correlated with the molecular biological findings in these patients. The results also provided evidence for interference between different myelin proteins. Our findings are in line with the results from animal studies (trembler and knock-out mice), which may provide insights into the pathogenesis of these human conditions.

Alternative Splicing in the HumanPMP22Gene: Implications in CMT1A Neuropathy

“…A–C and E–G). Although we cannot infer a direct role of Qki in mediating these gene expression alterations in CMT1A rat, our results perfectly fit with literature reports [Anani et al., ; Nobbio et al., ]. Interestingly, other Qki mRNA targets, including PLP , EGR2 , and MAG are dysregulated in CMT1A neuropathy as previously shown by others and us [Vigo et al., ; Nobbio et al., ; Kinter et al., ].…”

Ultrastructural identification of peripheral myelin proteins by a pre‐embedding immunogold labeling method

“…In spite of the above-mentioned problems and some admitted artifacts in the myelin morphology, we have chosen this technique, which is more appropriate in the localization of antigens that cannot withstand fixation or antigens in extremely low concentrations. Immunolabeling of peripheral myelin proteins have successfully been performed by ultracryomicrotomy techniques with sophisticated equipment in a few laboratories (Vallat et al, 1996;Haney et al, 1996;Anani et al, 1999;Sindou et al, 1999). Our aim was to establish a method that was easy to use and less expensive.…”