Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene.
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.
Miyamoto
K
K
Department of Neurology, Kyoto University, Japan. miyamo@ncnp.go.jp
Kowalska
A
A
Hasegawa
M
M
Tabira
T
T
Takahashi
K
K
Araki
W
W
Akiguchi
I
I
Ikemoto
A
A
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*
D016875:tau Proteins