Hereditary predominantly motor neuropathies

作者：Pareyson Davide^*; Marchesi Chiara; Salsano Ettore

来源：Current Opinion in Neurology, 2009, 22(5): 451-459.

DOI：10.1097/WCO.0b013e3283311dfd

• Charcot-Marie-Tooth disease
• hereditary motor and sensory neuropathy
• mitofusin 2
• myelin protein zero
• peripheral myelin protein 22

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 1 A; 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.

• 出版日期2009-10