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conservation, the axonal transport, and the mitochondrial dynamics. As a consequence, a degenerative
axonal process can be expected as the final common pathway in genetic neuropathies, regardless of the
metabolic/cytoplasmic/structural defect underlying the affectation of either the myelin, the axon, or the
Schwann cell-axon structure. In the case of the most commonly involved genes, such as GDAP1, GJB1,
HINT1, MFN2, MPZ, PMP22, SH3TC2, and SORD, a more in-depth analysis is carried out in this review to
shed light on the pathophysiological mechanisms. This has proven to be useful in pinpointing molecular
targets, thereby helping to identify and design therapeutical approaches. In conclusion, although nowadays
we lack disease-modifying treatments, increasing knowledge on the molecular basis of CMT will help to
reach them, which poses a promising future.

DECLARATIONS
Authors’ contributions
Made substantial contributions to concept, design and writing of the review: Estévez-Arias B, Carrera-
Garcia L, Nascimento A, Cantarero L, Hoenicka J, Palau F
Performed critical revision of the manuscript for important intellectual content and approved the final
version: Estévez-Arias B, Carrera-García L, Nascimento A, Cantarero L, Hoenicka J, Palau F

Availability of data and materials
Not applicable.

Financial support and sponsorship
This work was supported by the Agencia Estatal de Investigación (Spanish Ministry of Science and
Innovation) grant PID2020-114655RB-I00; the CIBERER-ACCI 2019-16; the Generalitat de Catalunya and
European Regional Development Fund grants 2015 FEDER/S21, and 2017/SGR1308; the Fundación Isabel
Gemio and the Torró Solidari-RAC1 i Torrons Vicens. The Centro de Investigación Biomédica en Red de
Enfermedades Raras (CIBERER) is an initiative of the Instituto de Salud Carlos III, and the Department of
Genetic Medicine of Sant Joan de Déu Children’s Hospital is part of the Centre Daniel Bravo de Diagnòstic i
Recerca de Malalties Minoritàries.

Conflicts of interest
All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
Not applicable.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2022.

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