Hereditary predominantly motor neuropathies (CMT)

[Guest guest]

Hereditary predominantly motor neuropathies.

Pareyson D, Marchesi C, Salsano E.

Unit of Neurology VIII, Clinics of Central and Peripheral Degenerative

Neuropathies, Department of Clinical Neurosciences, IRCCS Foundation, C. Besta

Neurological Institute, Milan, Italy.

PURPOSE OF REVIEW: We review recent advances in Charcot-Marie-Tooth disease

(CMT), the most frequent inherited neuromuscular disorder.

RECENT FINDINGS: During the last year further progresses have occurred in this

field and concerned identification of novel mutations in recently identified

genes, allowing better definition of associated phenotypes; increased knowledge

on pathophysiologic mechanisms of the different CMT types, with the contribution

of cellular and animal model studies; studies on the natural history of CMT and

attempts at developing appropriate outcome measures to assess disease course and

intervention efficacy; trials with ascorbic acid in CMT type 1A; and studies on

new possible therapeutic strategies.

SUMMARY: Such advances have implications on clinical management of CMT and are

modifying the clinical approach to CMT, by improving diagnostic tools, allowing

better definition of prognosis, and increasing the hope for future effective

treatments. Research on CMT is important as is shedding light on important

pathways that regulates the normal function of axonal transport, vesicular

trafficking, and also revealing new aspects of intracellular organelles'

function and interactions.