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Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11‐splice site in the tau gene
Author(s) -
Miyamoto Katsuichi,
Kowalska Anna,
Hasegawa Masato,
Tabira Takeshi,
Takahashi Keikichi,
Araki Wataru,
Akiguchi Ichiro,
Ikemoto Akito
Publication year - 2001
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.1083
Subject(s) - frontotemporal dementia , parkinsonism , exon , intron , globus pallidus , rna splicing , splice site mutation , mutation , substantia nigra , biology , neuroscience , genetics , dementia , medicine , pathology , gene , alternative splicing , basal ganglia , dopamine , dopaminergic , disease , central nervous system , rna
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.