Intrafamilial variability in fragile X–associated tremor/ataxia syndrome
Identifieur interne : 003375 ( Main/Exploration ); précédent : 003374; suivant : 003376Intrafamilial 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 ] ; 2006-01.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Ataxia, Atrophy, Cerebellum (pathology), DNA Mutational Analysis, Deep Brain Stimulation, FXTAS, Female, Follow-Up Studies, Fragile X Mental Retardation Protein (genetics), Fragile X Syndrome (diagnosis), Fragile X Syndrome (genetics), Fragile X Syndrome (therapy), Fragile X syndrome, Gait Apraxia (diagnosis), Gait Apraxia (genetics), Gait Apraxia (therapy), Genetic Variation (genetics), Humans, Magnetic Resonance Imaging, Male, Middle Aged, Nervous system diseases, Neurologic Examination, Nuclear magnetic resonance imaging, Pedigree, Sex Factors, Spinocerebellar Degenerations (diagnosis), Spinocerebellar Degenerations (genetics), Spinocerebellar Degenerations (therapy), Tremor, Tremor (diagnosis), Tremor (genetics), Tremor (therapy), Trinucleotide Repeats (genetics), Variability, essential tremor, fragile X, magnetic resonance imaging, tremor/ataxia syndrome.
- MESH :
- chemical , genetics : Fragile X Mental Retardation Protein.
- diagnosis : Fragile X Syndrome, Gait Apraxia, Spinocerebellar Degenerations, Tremor.
- genetics : Fragile X Syndrome, Gait Apraxia, Genetic Variation, Spinocerebellar Degenerations, Tremor, Trinucleotide Repeats.
- pathology : Cerebellum.
- therapy : Fragile X Syndrome, Gait Apraxia, Spinocerebellar Degenerations, Tremor.
- Atrophy, DNA Mutational Analysis, Deep Brain Stimulation, Female, Follow-Up Studies, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Neurologic Examination, Pedigree, Sex Factors.
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
Url:
DOI: 10.1002/mds.20673
Affiliations:
- Allemagne
- Bade-Wurtemberg, Bavière, District de Haute-Bavière, District de Tübingen
- Munich, Tübingen, Ulm
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Le document en format XML
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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"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea><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"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich</wicri:regionArea><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><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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="2006-01">2006-01</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="98">98</biblScope><biblScope unit="page" to="102">102</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">BEF0C5F2487D02A6E90AC0D8756C833C0ADF0203</idno><idno type="DOI">10.1002/mds.20673</idno><idno type="ArticleID">MDS20673</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia</term><term>Atrophy</term><term>Cerebellum (pathology)</term><term>DNA Mutational Analysis</term><term>Deep Brain Stimulation</term><term>FXTAS</term><term>Female</term><term>Follow-Up Studies</term><term>Fragile X Mental Retardation Protein (genetics)</term><term>Fragile X Syndrome (diagnosis)</term><term>Fragile X Syndrome (genetics)</term><term>Fragile X Syndrome (therapy)</term><term>Fragile X syndrome</term><term>Gait Apraxia (diagnosis)</term><term>Gait Apraxia (genetics)</term><term>Gait Apraxia (therapy)</term><term>Genetic Variation (genetics)</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Nervous system diseases</term><term>Neurologic Examination</term><term>Nuclear magnetic resonance imaging</term><term>Pedigree</term><term>Sex Factors</term><term>Spinocerebellar Degenerations (diagnosis)</term><term>Spinocerebellar Degenerations (genetics)</term><term>Spinocerebellar Degenerations (therapy)</term><term>Tremor</term><term>Tremor (diagnosis)</term><term>Tremor (genetics)</term><term>Tremor (therapy)</term><term>Trinucleotide Repeats (genetics)</term><term>Variability</term><term>essential tremor</term><term>fragile X</term><term>magnetic resonance imaging</term><term>tremor/ataxia syndrome</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Fragile X Mental Retardation Protein</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Fragile X Syndrome</term><term>Gait Apraxia</term><term>Spinocerebellar Degenerations</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Fragile X Syndrome</term><term>Gait Apraxia</term><term>Genetic Variation</term><term>Spinocerebellar Degenerations</term><term>Tremor</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cerebellum</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Fragile X Syndrome</term><term>Gait Apraxia</term><term>Spinocerebellar Degenerations</term><term>Tremor</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Atrophy</term><term>DNA Mutational Analysis</term><term>Deep Brain Stimulation</term><term>Female</term><term>Follow-Up Studies</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pedigree</term><term>Sex Factors</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie</term><term>Imagerie RMN</term><term>Système nerveux pathologie</term><term>Tremblement</term><term>Variabilité</term><term>X fragile syndrome</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2005 Movement Disorder Society</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 Eder, Elke" sort="Holinski Eder, Elke" uniqKey="Holinski Eder 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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