Molecular Pathology of Hereditary Neuropathy

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We analyzed 211 pedigrees with hereditary neuropathies and found 36 pedigrees with a duplication of chromosome 17p 11.2, 7 pedigrees with a deletion of chromosome 17p 11.2, 3 pedigrees with peripheral myelin protein 22 gene (PMP22) gene mutation, and 11 pedigrees with connexin 32 gene mutation. Three patients became symptomatic by vincristine administration. Compared with the data from foreign countries, the pedigrees due to a duplication of chromosome 17p 11.2 were few and most pedigrees were not identified their etiologies.We studied a female patient who presented with autosomal recessive or sporadic Charcot- Marie-Tooth disease type 1 (CMT1). She had a deletion of chromosome 17p 11.2 containing the peripheral myelin protein 22 gene (PMP22) and an Arg 157 Gly mutation of PMP22.We isolated the cDNA of human SCN8A, which is a voltage-gated sodium channel α subunits specific for peripheral nervous system as a candidate for Charcot-Marie-Tooth disease.We analyzed the myelin associated glycoprotein (MAG) gene as a candidate for the pedigrees due to unknown origin, however, the mutation was not detected in those pedigrees. MAG gene seems not be associated with pathological states.