Intrafamilial variability in fragile X–associated tremor/ataxia syndrome
Identifieur interne : 003182 ( Istex/Corpus ); précédent : 003181; suivant : 003183Intrafamilial variability in fragile X–associated tremor/ataxia syndrome
Auteurs : Nils Peters ; Christoph Kamm ; Friedrich Asmus ; Elke Holinski-Feder ; Eduard Kraft ; Martin Dichgans ; Roland Brüning ; Thomas Gasser ; Kai BötzelSource :
- Movement Disorders [ 0885-3185 ] ; 2006-01.
English descriptors
Abstract
Fragile X–associated tremor/ataxia syndrome (FXTAS) is a progressive adult‐onset tremor/ataxia syndrome caused by premutations in the FMR1 gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we present a sibpair of two affected brothers presenting with very different symptoms (typical FXTAS versus essential tremor‐like), disease progression, and MRI findings, illustrating broad intrafamilial variability of FXTAS. Also, their family history suggests further evidence of possible manifestation of FXTAS in women. © 2005 Movement Disorder Society
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DOI: 10.1002/mds.20673
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ISTEX:BEF0C5F2487D02A6E90AC0D8756C833C0ADF0203Le document en format XML
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countryCode="DE" type="organization"><unparsedAffiliation>Center of Medical Genetics, Munich, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, University of Ulm Medical Center, Ulm, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neuroradiology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">fragile X</keyword><keyword xml:id="kwd2">tremor/ataxia syndrome</keyword><keyword xml:id="kwd3">FXTAS</keyword><keyword xml:id="kwd4">essential tremor</keyword><keyword xml:id="kwd5">magnetic resonance imaging</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Fragile X–associated tremor/ataxia syndrome (FXTAS) is a progressive adult‐onset tremor/ataxia syndrome caused by premutations in the <i>FMR1</i> gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we present a sibpair of two affected brothers presenting with very different symptoms (typical FXTAS versus essential tremor‐like), disease progression, and MRI findings, illustrating broad intrafamilial variability of FXTAS. Also, their family history suggests further evidence of possible manifestation of FXTAS in women. © 2005 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Intrafamilial variability in fragile X–associated tremor/ataxia syndrome</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Intrafamilial Variability in FXTAS</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Intrafamilial variability in fragile X–associated tremor/ataxia syndrome</title></titleInfo><name type="personal"><namePart type="given">Nils</namePart><namePart type="family">Peters</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christoph</namePart><namePart type="family">Kamm</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Friedrich</namePart><namePart type="family">Asmus</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elke</namePart><namePart type="family">Holinski‐Feder</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Center of Medical Genetics, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Eduard</namePart><namePart type="family">Kraft</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Ulm Medical Center, Ulm, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Martin</namePart><namePart type="family">Dichgans</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Roland</namePart><namePart type="family">Brüning</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neuroradiology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Thomas</namePart><namePart type="family">Gasser</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kai</namePart><namePart type="family">Bötzel</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany</affiliation><description>Correspondence: Department of Neurology, Klinikum Großhadern, Ludwig Maximilians University Munich, Marchioninistrasse 15, 81377 Munich, Germany</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2006-01</dateIssued><dateCaptured encoding="w3cdtf">2004-12-05</dateCaptured><dateValid encoding="w3cdtf">2005-05-04</dateValid><copyrightDate encoding="w3cdtf">2006</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">3</extent><extent unit="references">13</extent><extent unit="words">2524</extent></physicalDescription><abstract lang="en">Fragile X–associated tremor/ataxia syndrome (FXTAS) is a progressive adult‐onset tremor/ataxia syndrome caused by premutations in the FMR1 gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we present a sibpair of two affected brothers presenting with very different symptoms (typical FXTAS versus essential tremor‐like), disease progression, and MRI findings, illustrating broad intrafamilial variability of FXTAS. Also, their family history suggests further evidence of possible manifestation of FXTAS in women. © 2005 Movement Disorder Society</abstract><subject lang="en"><genre>Keywords</genre><topic>fragile X</topic><topic>tremor/ataxia syndrome</topic><topic>FXTAS</topic><topic>essential tremor</topic><topic>magnetic resonance imaging</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2006</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>98</start><end>102</end><total>5</total></extent></part></relatedItem><identifier type="istex">BEF0C5F2487D02A6E90AC0D8756C833C0ADF0203</identifier><identifier type="DOI">10.1002/mds.20673</identifier><identifier type="ArticleID">MDS20673</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2005 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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