Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.

doi:10.1093/brain/awaf219

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Article

Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.

Brain : a journal of neurology - 5 Mar 2026

Ward Kailee S, Ptak Christopher P, Pashkova Natalya, Grider Tiffany, Peterson Tabitha A, Pareyson Davide, Pisciotta Chiara, Saveri Paola, Moroni Isabella, Laura Matilde, Burns Joshua, Menezes Manoj P, Cornett Kayla, Finkel Richard, Mukherjee-Clavin Bipasha, Sumner Charlotte J, Greene Maxwell, Abdul Hamid Omer, Herrmann David, Sadjadi Reza, Walk David, Züchner Stephan, Reilly Mary M, Scherer Steven S, Piper Robert C, Shy Michael E

Abstract excerpt

Charcot-Marie-Tooth disease type 1E (CMT1E) is a rare, autosomal dominant peripheral neuropathy caused by missense variants, deletions, and truncations within the peripheral myelin protein-22 (PMP22) gene. CMT1E phenotypes vary depending on the specific variant, ranging from mild to severe, and there is little natural history and phenotypic progression data on individuals with CMT1E. Patients with CMT1E were...

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PMID: 40488457
DOI: 10.1093/brain/awaf219
PMCID: PMC13016674

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PMP22

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