Animal Models of CMT2A: State-of-art and Therapeutic Implications

Roberta De Gioia, Gaia Citterio, Elena Abati, Monica Nizzardo, Nereo Bresolin, Giacomo Pietro Comi, Stefania Corti, Federica Rizzo

Research output: Contribution to journalReview articlepeer-review


Charcot–Marie–Tooth disease type 2A (CMT2A), arising from mitofusin 2 (MFN2) gene mutations, is the most common inherited axonal neuropathy affecting motor and sensory neurons. The cellular and molecular mechanisms by which MFN2 mutations determine neuronal degeneration are largely unclear. No effective treatment exists for CMT2A, which has a high degree of genetic/phenotypic heterogeneity. The identification of mutations in MFN2 has allowed the generation of diverse transgenic animal models, but to date, their ability to recapitulate the CMT2A phenotype is limited, precluding elucidation of its pathogenesis and discovery of therapeutic strategies. This review will critically present recent progress in in vivo CMT2A disease modeling, discoveries, drawbacks and limitations, current challenges, and key reflections to advance the field towards developing effective therapies for these patients.

Original languageEnglish
Pages (from-to)5121-5129
JournalMolecular Neurobiology
Issue number12
Publication statusPublished - 2020


  • Animal model
  • CMT2A
  • MFN2
  • Strengths and weaknesses

ASJC Scopus subject areas

  • Neurology
  • Cellular and Molecular Neuroscience


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