Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy
Identifieur interne : 003726 ( Istex/Curation ); précédent : 003725; suivant : 003727Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy
Auteurs : David R. Williams [Royaume-Uni] ; Alan M. Pittman [Royaume-Uni] ; Tamas Revesz [Royaume-Uni] ; Andrew J. Lees [Royaume-Uni] ; Rohan De Silva [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-04-30.
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Abstract
A number of different clinical syndromes have been associated with progressive supranuclear (PSP) tau pathology. Previous reports have suggested that atypical clinical phenotypes of PSP occur in familial disease, and might be associated with mutations of MAPT. We examined the association of PSP‐susceptibility tau haplotypes in pathologically diagnosed PSP, separated according to initial clinical features into classic PSP and atypical PSP groups (PSP‐Parkinsonism, PSP‐P). These patients were screened for mutations in exons 1 and 10 of MAPT. No mutations were found in 75 patients (21 PSP‐P), and H1c was associated with both Richardson's syndrome and PSP‐P compared with controls. Routine screening for MAPT mutations in atypical PSP is not recommended. © 2007 Movement Disorder Society
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DOI: 10.1002/mds.21393
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-04-30">2007-04-30</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="895">895</biblScope><biblScope unit="page" to="897">897</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">2F68005B33F10ABED0C443DA2F7E09FCB1603F69</idno><idno type="DOI">10.1002/mds.21393</idno><idno type="ArticleID">MDS21393</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>PSP</term><term>PSP‐Parkinsonism</term><term>Richardson's syndrome</term><term>tau</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A number of different clinical syndromes have been associated with progressive supranuclear (PSP) tau pathology. Previous reports have suggested that atypical clinical phenotypes of PSP occur in familial disease, and might be associated with mutations of MAPT. We examined the association of PSP‐susceptibility tau haplotypes in pathologically diagnosed PSP, separated according to initial clinical features into classic PSP and atypical PSP groups (PSP‐Parkinsonism, PSP‐P). These patients were screened for mutations in exons 1 and 10 of MAPT. No mutations were found in 75 patients (21 PSP‐P), and H1c was associated with both Richardson's syndrome and PSP‐P compared with controls. Routine screening for MAPT mutations in atypical PSP is not recommended. © 2007 Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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