Intrafamilial variability in fragile X-associated tremor/ataxia syndrome
Identifieur interne : 001A47 ( PascalFrancis/Checkpoint ); précédent : 001A46; suivant : 001A48Intrafamilial 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.
Descripteurs français
- Pascal (Inist)
English descriptors
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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.
Affiliations:
- Allemagne
- Bade-Wurtemberg, Bavière, District de Haute-Bavière, District de Tübingen
- Munich, Tübingen, Ulm
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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></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">06-0135504</idno><date when="2006">2006</date><idno type="stanalyst">PASCAL 06-0135504 INIST</idno><idno type="RBID">Pascal:06-0135504</idno><idno type="wicri:Area/PascalFrancis/Corpus">001C78</idno><idno type="wicri:Area/PascalFrancis/Curation">001043</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001A47</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><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>21</s2></fA05><fA06><s2>1</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Intrafamilial variability in fragile X-associated tremor/ataxia syndrome</s1></fA08><fA11 i1="01" i2="1"><s1>PETERS (Nils)</s1></fA11><fA11 i1="02" i2="1"><s1>KAMM (Christoph)</s1></fA11><fA11 i1="03" i2="1"><s1>ASMUS (Friedrich)</s1></fA11><fA11 i1="04" i2="1"><s1>HOLINSKI-FEDER (Elke)</s1></fA11><fA11 i1="05" i2="1"><s1>KRAFT (Eduard)</s1></fA11><fA11 i1="06" i2="1"><s1>DICHGANS (Martin)</s1></fA11><fA11 i1="07" i2="1"><s1>BRÜNING (Roland)</s1></fA11><fA11 i1="08" i2="1"><s1>GASSER (Thomas)</s1></fA11><fA11 i1="09" i2="1"><s1>BÖTZEL (Kai)</s1></fA11><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></fA14><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></fA14><fA14 i1="03"><s1>Center of Medical Genetics</s1><s2>Munich</s2><s3>DEU</s3><sZ>4 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Neurology, University of Ulm Medical Center</s1><s2>Ulm</s2><s3>DEU</s3><sZ>5 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Neuroradiology, Klinikum Grosshadern, Ludwig Maximilians University Munich</s1><s2>Munich</s2><s3>DEU</s3><sZ>7 aut.</sZ></fA14><fA20><s1>98-102</s1></fA20><fA21><s1>2006</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000133169150180</s5></fA43><fA44><s0>0000</s0><s1>© 2006 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>13 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>06-0135504</s0></fA47><fA60><s1>P</s1><s3>CC</s3></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17A01</s0></fC02><fC02 i1="03" i2="X"><s0>002B17G</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>X fragile syndrome</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Fragile X syndrome</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>X frágil síndrome</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Tremblement</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Tremor</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Temblor</s0><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Ataxie</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Ataxia</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Ataxia</s0><s5>04</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Variabilité</s0><s5>09</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Variability</s0><s5>09</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Variabilidad</s0><s5>09</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Imagerie RMN</s0><s5>10</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Nuclear magnetic resonance imaging</s0><s5>10</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Imaginería RMN</s0><s5>10</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Fragilité chromosomique</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Chromosome fragility</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Fragilidad cromosómica</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Encéphale pathologie</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>40</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>41</s5></fC07><fN21><s1>086</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><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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|texte= Intrafamilial variability in fragile X-associated tremor/ataxia syndrome
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