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Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future.
Boutary, Suzan; Echaniz-Laguna, Andoni; Adams, David; Loisel-Duwattez, Julien; Schumacher, Michael; Massaad, Charbel; Massaad-Massade, Liliane.
Affiliation
  • Boutary S; U 1195, INSERM and Paris-Saclay University, Le Kremlin-Bicêtre, France.
  • Echaniz-Laguna A; U 1195, INSERM and Paris-Saclay University, Le Kremlin-Bicêtre, France; Neurology Department, AP-HP, Paris-Saclay Universityand French Referent Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CRMR-NNERF), Bicêtre Hospital, Le Kremlin-Bicêtre, France.
  • Adams D; U 1195, INSERM and Paris-Saclay University, Le Kremlin-Bicêtre, France; Neurology Department, AP-HP, Paris-Saclay Universityand French Referent Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CRMR-NNERF), Bicêtre Hospital, Le Kremlin-Bicêtre, France.
  • Loisel-Duwattez J; U 1195, INSERM and Paris-Saclay University, Le Kremlin-Bicêtre, France; Neurology Department, AP-HP, Paris-Saclay Universityand French Referent Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies (CRMR-NNERF), Bicêtre Hospital, Le Kremlin-Bicêtre, France.
  • Schumacher M; U 1195, INSERM and Paris-Saclay University, Le Kremlin-Bicêtre, France.
  • Massaad C; Faculty of Basic and Biomedical Sciences, Paris Descartes University, INSERM UMRS 1124, Paris, France.
  • Massaad-Massade L; U 1195, INSERM and Paris-Saclay University, Le Kremlin-Bicêtre, France. Electronic address: liliane.massade@inserm.fr.
Transl Res ; 227: 100-111, 2021 01.
Article in En | MEDLINE | ID: mdl-32693030
ABSTRACT
Charcot-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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Gene Duplication / Myelin Proteins Limits: Humans Language: En Journal: Transl Res Journal subject: MEDICINA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Year: 2021 Document type: Article Affiliation country: France
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Gene Duplication / Myelin Proteins Limits: Humans Language: En Journal: Transl Res Journal subject: MEDICINA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Year: 2021 Document type: Article Affiliation country: France