title: Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene.
abstract: We report a case of familial frontotemporal dementia and parkinsonism characterized by early onset with mental retardation. The patient died at the age of 54; neuronal loss was severe in the frontal and temporal cortices, globus pallidus, substantia nigra, red nucleus and dentate nucleus. Anti-tau-positive fibrillary changes were observed in neurons and glia in these regions. 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 analysis indicated that the latter was pathogenic.
authors.affiliation: Department of Neurology, Kyoto University, Japan. miyamo@ncnp.go.jp
authors.forename: K
authors.initials: K
authors.lastname: Miyamoto
authors.forename: A
authors.initials: A
authors.lastname: Kowalska
authors.forename: M
authors.initials: M
authors.lastname: Hasegawa
authors.forename: T
authors.initials: T
authors.lastname: Tabira
authors.forename: K
authors.initials: K
authors.lastname: Takahashi
authors.forename: W
authors.initials: W
authors.lastname: Araki
authors.forename: I
authors.initials: I
authors.lastname: Akiguchi
authors.forename: A
authors.initials: A
authors.lastname: Ikemoto
mesh_terms: D001921:Brain / Q000473:pathology*; D003704:Dementia / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D007438:Introns / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D016875:tau Proteins / Q000235:genetics*
chemical_list: D016875:tau Proteins