DOI: 10.1002/ana.1083. Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11‐splice site in the <i>tau</i> gene

Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11‐splice site in the tau gene

10.1002/ana.1083

Crossref journal-article

Wiley

Annals of Neurology (311)

Abstract

AbstractWe 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.

Bibliography

Miyamoto, K., Kowalska, A., Hasegawa, M., Tabira, T., Takahashi, K., Araki, W., Akiguchi, I., & Ikemoto, A. (2001). Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11âsplice site in the tau gene. Annals of Neurology, 50(1), 117â120. Portico.

Authors 8

Katsuichi Miyamoto (first)
Anna Kowalska (additional)
Masato Hasegawa (additional)
Takeshi Tabira (additional)
Keikichi Takahashi (additional)
Wataru Araki (additional)
Ichiro Akiguchi (additional)
Akito Ikemoto (additional)

References 20 Referenced 52

10.1002/ana.410410606
10.1093/jnen/59.11.990
10.1038/31508
10.1212/WNL.54.9.1787
10.1007/s004010051052
10.1002/ana.410430617
10.1097/00005072-199906000-00011
10.1097/00001756-199902250-00010
10.1002/1531-8249(200012)48:6<850::AID-ANA5>3.0.CO;2-V
10.1097/00005072-199912000-00002
10.1073/pnas.96.10.5598
10.1002/1531-8249(200012)48:6<939::AID-ANA17>3.0.CO;2-1
10.1093/brain/123.5.880
10.1086/302256
10.1002/1531-8249(20010201)49:2<263::AID-ANA50>3.0.CO;2-K
10.1073/pnas.95.13.7737
10.1002/1531-8249(200004)47:4<422::AID-ANA4>3.0.CO;2-G
{'key': 'e_1_2_6_19_2', 'article-title': 'Genetic analysis in patients with familial and sporadic frontotemporal dementia: two tau mutation in only familial cases and no association with apolipoprotein e4', 'author': 'Kowalska A', 'journal-title': 'Dement Geriatr Cogn Disord'} / Dement Geriatr Cogn Disord / Genetic analysis in patients with familial and sporadic frontotemporal dementia: two tau mutation in only familial cases and no association with apolipoprotein e4 by Kowalska A
10.1016/S0014-5793(98)01696-2
{'issue': '2', 'key': 'e_1_2_6_21_2', 'first-page': 'a99', 'article-title': 'Frontal executive dysfunction precedes dementia by decades in patients with frontotemporal dementia', 'volume': '52', 'author': 'Geschwind DH', 'year': '1999', 'journal-title': 'Neurology'} / Neurology / Frontal executive dysfunction precedes dementia by decades in patients with frontotemporal dementia by Geschwind DH (1999)

Dates

Type	When
Created	22 years, 11 months ago (Sept. 10, 2002, 9:23 p.m.)
Deposited	1 year, 10 months ago (Oct. 11, 2023, 11:20 a.m.)
Indexed	3 weeks, 3 days ago (Aug. 12, 2025, 6:15 p.m.)
Issued	24 years, 2 months ago (June 26, 2001)
Published	24 years, 2 months ago (June 26, 2001)
Published Online	24 years, 2 months ago (June 26, 2001)
Published Print	24 years, 2 months ago (July 1, 2001)

Funders 0

None

BibTeX

@article{Miyamoto_2001, title={Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11‐splice site in the tau gene}, volume={50}, ISSN={1531-8249}, url={http://dx.doi.org/10.1002/ana.1083}, DOI={10.1002/ana.1083}, number={1}, journal={Annals of Neurology}, publisher={Wiley}, author={Miyamoto, Katsuichi and Kowalska, Anna and Hasegawa, Masato and Tabira, Takeshi and Takahashi, Keikichi and Araki, Wataru and Akiguchi, Ichiro and Ikemoto, Akito}, year={2001}, month=jun, pages={117–120} }

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