Pelizaeus–Merzbacher Disease

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Pelizaeus–Merzbacher Disease (PMD) occurs due to PLP1 mutations, which is located on the X chromosome and encodes proteolipid protein 1 (PLP1), the main protein constituent of central nervous system myelin. A multitude of different PLP1 mutation types include point mutations, copy number alterations, and deletions/null mutations. The diagnosis of PMD is established by a detailed examination of the patient's neurological signs, the presence of hypomyelinated white matter on magnetic resonance imaging, and an X-linked inheritance pattern. PLP1 molecular testing is needed to confirm the diagnosis and guide genetic counseling. No disease-specific therapy exists and care remains supportive.