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
K Miyamoto, A Kowalska, M Hasegawa, T Tabira, K Takahashi, W Araki, I Akiguchi…
Annals of Neurology: Official Journal of the American Neurological …, 2001Wiley 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 …
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.
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