title: A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies.
abstract: Familial dementia with swollen achromatic neurons and corticobasal inclusion bodies is a neurodegenerative disease that resembles corticobasal degeneration. It is characterized by the presence of abundant neuronal and glial tau protein deposits. Here we describe a novel silent mutation in exon 10 of tau (N296N) in this familial dementia. By exon trapping, the mutation produced an increase in the splicing in of exon 10, indicating that it probably causes disease through an overproduction of four-repeat tau.
authors: Brain Repair Centre, University of Cambridge, UK.
authors: M G
authors: MG
authors: Spillantini
authors: H
authors: H
authors: Yoshida
authors: C
authors: C
authors: Rizzini
authors: P L
authors: PL
authors: Lantos
authors: N
authors: N
authors: Khan
authors: M N
authors: MN
authors: Rossor
authors: M
authors: M
authors: Goedert
authors: J
authors: J
authors: Brown
mesh_terms: D001483:Base Sequence; D001921:Brain / Q000473:pathology*; D003704:Dementia / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000473:pathology*; D008875:Middle Aged; D009474:Neurons / Q000473:pathology*; D016875:tau Proteins / Q000235:genetics*
chemical_list: D016875:tau Proteins