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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<front><div type="abstract" xml: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</div>
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<keyword xml:id="kwd4">essential tremor</keyword>
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<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>
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<!--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>
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<titleInfo type="abbreviated" lang="en"><title>Intrafamilial Variability in FXTAS</title>
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<name type="personal"><namePart type="given">Nils</namePart>
<namePart type="family">Peters</namePart>
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<affiliation>Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany</affiliation>
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<name type="personal"><namePart type="given">Martin</namePart>
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<name type="personal"><namePart type="given">Kai</namePart>
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<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>
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<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>
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<relatedItem type="host"><titleInfo><title>Movement Disorders</title>
<subTitle>Official Journal of the Movement Disorder Society</subTitle>
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<titleInfo type="abbreviated"><title>Mov. Disord.</title>
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<topic>Brief Report</topic>
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<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>
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<detail type="issue"><caption>no.</caption>
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<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2005 Movement Disorder Society</accessCondition>
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