Juliane Bremer, Axel Meinhardt, Istvan Katona, Jan Senderek, Elke K Kämmerer-Gassler, Andreas Roos, Andreas Ferbert, J Michael Schröder, Stefan Nikolin, Kay Nolte, Bernd Sellhaus, Klimentina Popzhelyazkova, Frank Tacke, Ulrike Schara-Schmidt, Eva Neuen-Jacob, Chantal Ceuterick de Groote, Peter de Jonghe, Vincent Timmerman, Jonathan Baets, Joachim Weis
Myelin protein zero (MPZ/P0) is a major structural protein of peripheral nerve myelin. Disease-associated variants in the MPZ gene cause a wide phenotypic spectrum of inherited peripheral neuropathies. Previous nerve biopsy studies showed evidence for subtype-specific morphological features. Here, we aimed at enhancing the understanding of these subtype-specific features and pathophysiological aspects of MPZ neuropathies. We examined archival material from two Central European centers and systematically determined genetic, clinical, and neuropathological features of 21 patients with MPZ mutations compared to 16 controls...
August 15, 2023: Brain Pathology