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Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.

Brain pathology (Zurich, Switzerland) - 1 Jan 2024

Bremer Juliane, Meinhardt Axel, Katona Istvan, Senderek Jan, Kämmerer-Gassler Elke K, Roos Andreas, Ferbert Andreas, Schröder J Michael, Nikolin Stefan, Nolte Kay, Sellhaus Bernd, Popzhelyazkova Klimentina, Tacke Frank, Schara-Schmidt Ulrike, Neuen-Jacob Eva, de Groote Chantal Ceuterick, de Jonghe Peter, Timmerman Vincent, Baets Jonathan, Weis Joachim

Abstract excerpt

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...

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Identifiers

PMID: 37581289
DOI: 10.1111/bpa.13200
PMCID: PMC10711263

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