Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined

In the families reported by Van Bogaert and Moreau (1939-41), Charcot-Marie-Tooth disease and Friedreich ataxia occurred in the same individuals in a pattern of sex-linked recessive inheritance. Possibly this is a mutation distinct from that responsible for the 2 disorders separately. If the genes for peroneal muscular atrophy and Friedreich ataxia are closely situated on the X chromosome, deletion is another possible explanation for the finding in this family, namely, a 'contiguous gene syndrome' (Schmickel, 1986). In the kindred reported by Biemond (1928), some individuals had Charcot-Marie-Tooth disease (in a pedigree pattern consistent with X-linked inheritance), whereas 2 females of 1 sibship had Friedreich ataxia. In addition, many members of the kindred had congenital deafness (in a pattern consistent with autosomal recessive inheritance). Thus, 3 seemingly independent hereditary traits were observed in the same family. Van Bogaert's family is probably the only one in which the 2 neurologic diseases always occurred together in an X-linked pattern.