Sequencing of the GFAP gene with informed consent revealed a heterozygous missense mutation in exon 5 (c.827G>T), causing a change of arginine to leucine at amino acid position 276 (p.R276L). The mutation was not found in her mother. The father, who died in traffic accident in his forties, could not be investigated. This mutation has already been described as responsible for pathologically proven hereditary [4] and sporadic [5] cases of adult-onset AxD. According to an interview, there was no relationship between the present patient and the families previously reported, although they originated from the same region of Japan.