CMT disorders with an autosomal recessive mode of inheritance

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Clin Neuropathol. 2008 Jan-Feb;27(1):1-12.

Charcot-Marie-Tooth disorders with an autosomal recessive mode of

inheritance.

Kabzinska D, Hausmanowa-Petrusewicz I, Kochanski A.

Neuromuscular Unit, Mossakowski Medical Research Center, Polish

Academy of Sciences, Pawinskiego 5, Warszawa, Poland.

In recent years, 13 loci and 10 genes have been identified in Charcot-

Marie-Tooth disorders with a recessive mode of inheritance (AR-CMT).

Accordingly, the entity of AR-CMT has been divided into subgroups on

the basis of genetic linkage. Mutations in the MTMR2, MTMR13, GDAP1,

PRX, CTDPI, KIAA1985 and NDRG1 genes have been shown to be associated

with specific CMT phenotypes. In AR-CMT disorders associated with

mutations in the LMNA and MED25 genes the number of patients is still

too low to achieve reliable phenotype-genotype correlations. In the

present review, we summarize molecular, electrophysiological,

neuropathological and clinical aspects of AR-CMT disorders.