Article

Molecular studies have created a paradigm shift in our perception of
Charcot-Marie-Tooth disease (CMT). Indeed, CMT has evolved from the concept of a
rather homogeneous hereditary disease exclusively involving peripheral nerves to
the concept of a highly heterogeneous clinical and genetic syndrome mainly - but
sometimes not exclusively - involving the peripheral nervous system. The
phenotypic spectrum of CMT overlaps with other inherited neuropathies such as
distal hereditary motor neuropathy (dHMN), hereditary sensory and autonomic
neuropathy (HSAN), spinal muscular atrophy (SMA) subtypes, and the neuropathies
of mitochondrial disorders. At a molecular level, mutations in one given gene may
alternatively provoke CMT, HSAN, dHMN or SMA variants. Over the last years, there
have been dramatic advances in deciphering the molecular basis for many CMT
subtypes and more than 900 different mutations in more than 60 causative genes
are now described. However, as 75% of CMT causative genes apparently remain
unknown and as disease-specific therapies are not available, major advances are
yet to come in the field of CMT.
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Langue : ANGLAIS