Genetics of CMT/HMSN and the Costa Rican contribution

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Rev Biol Trop. 2004 Sep;52(3):475-83.

Genetics of hereditary motor and sensory neuropathy and the Costa

Rican contribution.

Leal A.

Escuela de Biologia e Instituto de Investigaciones en Salud,

Universidad de Costa Rica, 2060 San , Costa Rica.

Hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-

Tooth disease (CMT) is the most common hereditary illness of the

peripheral nervous system. The genetics and the physiopathological

aspects of the disease clarified until know, are here summarized.

More than twenty genes and ten additional loci have been related

with HMSN. These findings contribute to understand the metabolism of

peripheral nerves and give the basis for molecular diagnostics and

future therapy.

Several Costa Rican families with CMT have been identified,

specially with axonal forms. Two families present mutations in the

myelin protein zero gene (IMPZ). In addition, linkage have been

found between the disease and locus 19q13.3 in an extended family,

and a mutation segregating with the disease is present in a

candidate gene of the critical interval.

Costa Rica has several advantages for genetical studies, that can

contribute importantly in the generation of knowledge in the

neurogenetical field.