A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies

Familial dementia with swollen achromatic neurons and corticobasal inclusio n bodies is a neurodegenerative disease that resembles corticobasal degener ation. It is characterized by the presence of abundant neuronal and glial t au protein deposits. Here we describe a novel silent mutation in exon 10 of tau (N296N) in this familial dementia. By exon trapping, the mutation prod uced an increase in the splicing in of exon 10, indicating that it probably causes disease through an overproduction of four-repeat tau.