Familial frontotemporal dementia and Parkinsonism with a novel mutation atan intron 10+11-splice site in the tau gene

We report a case of familial frontotemporal dementia and parkinsonism chara cterized by early onset with mental retardation. The patient died at the ag e of 54; neuronal loss was severe in the frontal and temporal cortices, glo bus pallidus, substantia nigra, red nucleus and dentate nucleus. Anti-tau-p ositive fibrillary changes were observed in neurons and glia in these regio ns. Although the patient had 2 novel point mutations of the tau gene, P301P (CCG to CCA) and an intron 10+11-splice site (T to C), exon trapping analy sis indicated that the latter was pathogenic.