Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells
E Iseki, T Matsumura, W Marui, H Hino, T Odawara… - Acta …, 2001 - Springer
We report a 62-year-old Japanese man with familial frontotemporal dementia and a novel
missense mutation (N296H) in exon 10 of the tau gene. The patient presented with frontal
signs followed by temporal signs and parkinsonism. The brain showed localized
frontotemporal lobe atrophy including the precentral gyrus and discoloration of the
substantia nigra, and revealed severe neuronal loss with proliferation of tau-positive
protoplasmic astroglia in the affected cerebral cortex, tau-positive coiled bodies and threads …
missense mutation (N296H) in exon 10 of the tau gene. The patient presented with frontal
signs followed by temporal signs and parkinsonism. The brain showed localized
frontotemporal lobe atrophy including the precentral gyrus and discoloration of the
substantia nigra, and revealed severe neuronal loss with proliferation of tau-positive
protoplasmic astroglia in the affected cerebral cortex, tau-positive coiled bodies and threads …
Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11‐splice site in the tau gene
K Miyamoto, A Kowalska, M Hasegawa… - Annals of Neurology …, 2001 - Wiley Online Library
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 …
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 …
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