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‐p...
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| Veröffentlicht in: | Annals of neurology 2001-07, Vol.50 (1), p.117-120 |
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| container_title | Annals of neurology |
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| creator | Miyamoto, Katsuichi Kowalska, Anna Hasegawa, Masato Tabira, Takeshi Takahashi, Keikichi Araki, Wataru Akiguchi, Ichiro Ikemoto, Akito |
| description | 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. |
| doi_str_mv | 10.1002/ana.1083 |
| format | Article |
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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.</description><subject>Biological and medical sciences</subject><subject>Brain - pathology</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Dementia - genetics</subject><subject>Dementia - pathology</subject><subject>Humans</subject><subject>Immunohistochemistry</subject><subject>Introns - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Neurology</subject><subject>Parkinsonian Disorders - genetics</subject><subject>Pedigree</subject><subject>Point Mutation - genetics</subject><subject>tau Proteins - genetics</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10V2L1TAQBuAgint2FfwFkgsRQaqZJk3by8PiWYVlVfADvAlz0okbbdPapPvx781yinrjVRLm4R14w9gTEK9AiPI1BsyXRt5jG6gkFE2p2vtsI6RWRQVSHbHjGH8IIVoN4iE7AlCVlgI27GqHg-899tzNY0hjomEa5_zsaKCQPHIMHZ9w_ulDHIOPA7_26ZIjD-MV9XxYEiY_Bo4pS-5DyjEcxEuAIk69t8SjT5QHPF0ST7jw7xToEXvgsI_0eD1P2Ofdm0-nb4vz92fvTrfnhVUgZdEp0PuqktY1FYImJ5TqSnQldI3tXCc11bppybZSWRCkS6e0bHUpaldSvZcn7Pkhd5rHXwvFZAYfLfU9BhqXaGoQJbSVyvDFAdp5jHEmZ6bZDzjfGhDmrmOTOzZ3HWf6dM1c9gN1f-FaagbPVoDRYu9mDNbHfwIrVas6s-LArn1Pt__dZ7YX23Xv6n1MdPPH568xupZ1Zb5enJkd6I9af_tgvsjfNyGhBQ</recordid><startdate>200107</startdate><enddate>200107</enddate><creator>Miyamoto, Katsuichi</creator><creator>Kowalska, Anna</creator><creator>Hasegawa, Masato</creator><creator>Tabira, Takeshi</creator><creator>Takahashi, Keikichi</creator><creator>Araki, Wataru</creator><creator>Akiguchi, Ichiro</creator><creator>Ikemoto, Akito</creator><general>John Wiley & Sons, Inc</general><general>Willey-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200107</creationdate><title>Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene</title><author>Miyamoto, Katsuichi ; Kowalska, Anna ; Hasegawa, Masato ; Tabira, Takeshi ; Takahashi, Keikichi ; Araki, Wataru ; Akiguchi, Ichiro ; Ikemoto, Akito</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4133-d416b553cf85a16ef044d2af21d8cdfd36e7689ec934c10e62f46396207f2e7b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Biological and medical sciences</topic><topic>Brain - pathology</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. 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| ispartof | Annals of neurology, 2001-07, Vol.50 (1), p.117-120 |
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| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Biological and medical sciences Brain - pathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Dementia - genetics Dementia - pathology Humans Immunohistochemistry Introns - genetics Male Medical sciences Middle Aged Neurology Parkinsonian Disorders - genetics Pedigree Point Mutation - genetics tau Proteins - genetics |
| title | Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene |
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