• Transl Res · Jan 2021

    Review

    Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: The past, the present and the future.

    • Suzan Boutary, Andoni Echaniz-Laguna, David Adams, Julien Loisel-Duwattez, Michael Schumacher, Charbel Massaad, and Liliane Massaad-Massade.
    • U 1195, INSERM and Paris-Saclay University, Le Kremlin-Bicêtre, France.
    • Transl Res. 2021 Jan 1; 227: 100-111.

    AbstractCharcot-Marie-Tooth (CMT) disease is the most frequent inherited neuropathy, affecting 1/1500 to 1/10000. CMT1A represents 60%-70% of all CMT and is caused by a duplication on chromosome 17p11.2 leading to an overexpression of the Peripheral Myelin Protein 22 (PMP22). PMP22 gene is under tight regulation and small changes in its expression influences myelination and affect motor and sensory functions. To date, CMT1A treatment is symptomatic and classic pharmacological options have been disappointing. Here, we review the past, present, and future treatment options for CMT1A, with a special emphasis on the highly promising potential of PMP22-targeted small interfering RNA and antisense oligonucleotides.Copyright © 2020 Elsevier Inc. All rights reserved.

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