Neuropatía sensitivo-motora hereditaria tipo Russe en etnia gitana

Abstract

Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, having a prevalence of 28,2 cases per 100.000 inhabitants. It is one of the genetically most complex neurodegenerative syndromes in which 31 cloned pathogenic genes have been described. Demyelinating forms with autosomal recessive transmission represent 4% of the European population affected by CMT. In countries with high consanguinity risk, the percentage may be higher. In gypsy ethnic groups it must be considered that three founding mutations represent three variants: CMT4D Lom type (NDRG1 mutation), CMT4G Russe type (HK1 mutation) and CMT4C (SH3TC2 mutation) all of them described in Spain. In this article, three cases of demyelinating CMT AR heredity and HK1 mutations will be discussed for the same gypsy families.