Long survival in Fukuyama congenital muscular dystrophy: occurrence of neurofibrillary tangles in the nucleus basalis of Meynert and locus ceruleus.

Three patients with Fukuyama congenital muscular dystrophy (FCMD), who died aged 23, 29 and 34 years, are reported. There was extensive brain malformation, but the most severe pattern of cortical dysplasia was absent in one case and in the other two localized bilaterally to small areas near the occipital poles. In two cases, numerous neurofibrillary tangles were observed in the locus ceruleus and nucleus basalis of Meynert. Electron microscopy revealed paired helical filaments, with a maximal width of about 25 nm and regular constrictions at approximately 80 nm intervals. The occurrence of neurofibrillary tangles, which is unknown in younger patients, suggests the presence of degenerative processes in the brains of the older patients with FCMD.