Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

doi:10.1016/j.ymgme.2026.110154

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Article

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Molecular genetics and metabolism - 1 Jul 2026

Sevagamoorthy Anjana, Woidill Sarah, Sudilovsky Gabrielle, Kelley Kaleb, Vaia Ylenia, Gavazzi Francesco, Schmidt Johanna L, Pizzino Amy, D'Aiello Russel, Uebergang Eloise, Bruschi Fabio, Mirchi Amytice, Abe-Hatano Chihiro, Sartorelli Jacapo, Nicita Francesco, Cunningham Chloe, Tonduti Davide, Bertini Enrico, Bernard Geneviève, Inoue Ken, Wolf Nicole I, Adang Laura A, Shults Justine, Vanderver Adeline

Abstract excerpt

INTRODUCTION: Pelizaeus-Merzbacher Disease (PMD) is a PLP1-related disorder for which genotype alone is insufficient to reliably determine PMD disease progression. We aim to characterize the developmental outcomes of PMD-affected individuals and evaluate their association with early presentation features. METHODS: Molecularly confirmed PMD subjects were included. Data on baseline characteristics, developmental,...

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PMID: 42176404
DOI: 10.1016/j.ymgme.2026.110154
PMCID: PMC13371939

Genes

PLP1

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