Source:http://linkedlifedata.com/resource/pubmed/id/11861703
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2002-2-25
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pubmed:abstractText |
Progressive supranuclear palsy (PSP) is a tau deposition neurodegenerative disorder which usually occurs in sporadic form and is associated with a common variant of the tau gene. Rare familial forms of PSP have been described. Recently familial frontotemporal dementia linked to chromosome 17 (FTDP-17) has been shown to be due to mutations in tau and there may be a clinical and pathological overlap between PSP and FTDP-17. In this study we have analysed the tau sequence in two small families with PSP, and a number of clinically typical and atypical sporadic cases with pathological confirmation of the diagnosis. The tau mutations described in FTDP-17 were not found in the most clinically diagnosed patients with PSP. This suggests that usually FTDP-17 and PSP, including the rare familial form of PSP, are likely to be separate conditions and that usually PSP and typical PSP-like syndromes are not due to mutations in tau.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0022-3050
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
72
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
388-90
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pubmed:dateRevised |
2008-11-20
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pubmed:meshHeading |
pubmed-meshheading:11861703-Aged,
pubmed-meshheading:11861703-Chromosomes, Human, Pair 17,
pubmed-meshheading:11861703-DNA Mutational Analysis,
pubmed-meshheading:11861703-Dementia,
pubmed-meshheading:11861703-Female,
pubmed-meshheading:11861703-Humans,
pubmed-meshheading:11861703-Male,
pubmed-meshheading:11861703-Middle Aged,
pubmed-meshheading:11861703-Sequence Analysis, DNA,
pubmed-meshheading:11861703-Supranuclear Palsy, Progressive,
pubmed-meshheading:11861703-tau Proteins
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pubmed:year |
2002
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pubmed:articleTitle |
Sequence analysis of tau in familial and sporadic progressive supranuclear palsy.
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pubmed:affiliation |
University Department of Clinical Neurology, Institute of Neurology, Queen Square, London WC1NBG, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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