Intrafamilial variability in fragile X-associated tremor/ataxia syndrome
Identifieur interne : 004B42 ( Main/Merge ); précédent : 004B41; suivant : 004B43Intrafamilial variability in fragile X-associated tremor/ataxia syndrome
Auteurs : Nils Peters [Allemagne] ; Christoph Kamm [Allemagne] ; Friedrich Asmus [Allemagne] ; Elke Holinski-Feder [Allemagne] ; Eduard Kraft [Allemagne] ; Martin Dichgans [Allemagne] ; Roland Brüning [Allemagne] ; Thomas Gasser [Allemagne] ; Kai Bötzel [Allemagne]Source :
- Movement disorders [ 0885-3185 ] ; 2006.
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- Pascal (Inist)
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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.
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type="wicri:Area/Main/Merge">004B42</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Intrafamilial variability in fragile X-associated tremor/ataxia syndrome</title><author><name sortKey="Peters, Nils" sort="Peters, Nils" uniqKey="Peters N" first="Nils" last="Peters">Nils Peters</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich</s1><s2>Munich</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Asmus, Friedrich" sort="Asmus, Friedrich" uniqKey="Asmus F" first="Friedrich" last="Asmus">Friedrich Asmus</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Holinski Feder, Elke" sort="Holinski Feder, Elke" uniqKey="Holinski Feder E" first="Elke" last="Holinski-Feder">Elke Holinski-Feder</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Center of Medical Genetics</s1><s2>Munich</s2><s3>DEU</s3><sZ>4 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Kraft, Eduard" sort="Kraft, Eduard" uniqKey="Kraft E" first="Eduard" last="Kraft">Eduard Kraft</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Neurology, University of Ulm Medical Center</s1><s2>Ulm</s2><s3>DEU</s3><sZ>5 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement></placeName></affiliation></author><author><name sortKey="Dichgans, Martin" sort="Dichgans, Martin" uniqKey="Dichgans M" first="Martin" last="Dichgans">Martin Dichgans</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich</s1><s2>Munich</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Bruning, Roland" sort="Bruning, Roland" uniqKey="Bruning R" first="Roland" last="Brüning">Roland Brüning</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neuroradiology, Klinikum Grosshadern, Ludwig Maximilians University Munich</s1><s2>Munich</s2><s3>DEU</s3><sZ>7 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Botzel, Kai" sort="Botzel, Kai" uniqKey="Botzel K" first="Kai" last="Bötzel">Kai Bötzel</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich</s1><s2>Munich</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006">2006</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia</term><term>Fragile X syndrome</term><term>Nervous system diseases</term><term>Nuclear magnetic resonance imaging</term><term>Tremor</term><term>Variability</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>X fragile syndrome</term><term>Tremblement</term><term>Ataxie</term><term>Variabilité</term><term>Imagerie RMN</term></keywords></textClass></profileDesc></teiHeader><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.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Bade-Wurtemberg</li><li>Bavière</li><li>District de Haute-Bavière</li><li>District de Tübingen</li></region><settlement><li>Munich</li><li>Tübingen</li><li>Ulm</li></settlement></list><tree><country name="Allemagne"><region name="Bavière"><name sortKey="Peters, Nils" sort="Peters, Nils" uniqKey="Peters N" first="Nils" last="Peters">Nils Peters</name></region><name sortKey="Asmus, Friedrich" sort="Asmus, Friedrich" uniqKey="Asmus F" first="Friedrich" last="Asmus">Friedrich Asmus</name><name sortKey="Botzel, Kai" sort="Botzel, Kai" uniqKey="Botzel K" first="Kai" last="Bötzel">Kai Bötzel</name><name sortKey="Bruning, Roland" sort="Bruning, Roland" uniqKey="Bruning R" first="Roland" last="Brüning">Roland Brüning</name><name sortKey="Dichgans, Martin" sort="Dichgans, Martin" uniqKey="Dichgans M" first="Martin" last="Dichgans">Martin Dichgans</name><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><name sortKey="Holinski Feder, Elke" sort="Holinski Feder, Elke" uniqKey="Holinski Feder E" first="Elke" last="Holinski-Feder">Elke Holinski-Feder</name><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name><name sortKey="Kraft, Eduard" sort="Kraft, Eduard" uniqKey="Kraft E" first="Eduard" last="Kraft">Eduard Kraft</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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