Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines
Identifieur interne : 000290 ( Istex/Corpus ); précédent : 000289; suivant : 000291Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines
Auteurs : Elizabeth Berry-Kravis ; Liane Abrams ; Sarah M. Coffey ; Deborah A. Hall ; Claudia Greco ; Louise W. Gane ; Jim Grigsby ; James A. Bourgeois ; Brenda Finucane ; Sebastien Jacquemont ; James A. Brunberg ; Lin Zhang ; Janet Lin ; Flora Tassone ; Paul J. Hagerman ; Randi J. Hagerman ; Maureen A. LeeheySource :
- Movement Disorders [ 0885-3185 ] ; 2007-10-31.
English descriptors
Abstract
Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropathy, and dysautonomia. Magnetic Resonance Imaging studies in FXTAS demonstrate increased T2 signal intensity in the middle cerebellar peduncles (MCP sign) in the majority of patients. Similar signal alterations are seen in deep and subependymal cerebral white matter, as is general cortical and subcortical atrophy. The major neuropathological feature of FXTAS is the presence of intranuclear, neuronal, and astrocytic, inclusions in broad distribution throughout the brain and brainstem. FXTAS is caused by moderate expansions (55–200 repeats; premutation range) of a CGG trinucleotide in the fragile X mental retardation 1 (FMR1) gene, the same gene which causes fragile X syndrome when in the full mutation range (200 or greater CGG repeats). The pathogenic mechanism is related to overexpression and toxicity of the FMR1 mRNA per se. Although only recently discovered, and hence currently under‐diagnosed, FXTAS is likely to be one of the most common single‐gene disorders leading to neurodegeneration in males. In this report, we review information available on the clinical, radiological, and pathological features, and prevalence and management of FXTAS. We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made. © 2007 Movement Disorder Society
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DOI: 10.1002/mds.21493
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Hagerman</name><affiliation><mods:affiliation>Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine, Davis, California</mods:affiliation></affiliation></author><author><name sortKey="Hagerman, Randi J" sort="Hagerman, Randi J" uniqKey="Hagerman R" first="Randi J." last="Hagerman">Randi J. Hagerman</name><affiliation><mods:affiliation>Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California</mods:affiliation></affiliation><affiliation><mods:affiliation>MIND Institute, University of California at Davis Medical Center, Sacramento, California</mods:affiliation></affiliation></author><author><name sortKey="Leehey, Maureen A" sort="Leehey, Maureen A" uniqKey="Leehey M" first="Maureen A." last="Leehey">Maureen A. Leehey</name><affiliation><mods:affiliation>Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, Colorado</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:ECF405116C8CC59A46F47D8296A877E2B6CFC56F</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21493</idno><idno type="url">https://api.istex.fr/document/ECF405116C8CC59A46F47D8296A877E2B6CFC56F/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000290</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines</title><author><name sortKey="Berry Ravis, Elizabeth" sort="Berry Ravis, Elizabeth" uniqKey="Berry Ravis E" first="Elizabeth" last="Berry-Kravis">Elizabeth Berry-Kravis</name><affiliation><mods:affiliation>Department of Pediatrics, Rush University Medical Center, Chicago, Illinois</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Biochemistry, Rush University Medical Center, Chicago, Ilinois</mods:affiliation></affiliation></author><author><name sortKey="Abrams, Liane" sort="Abrams, Liane" uniqKey="Abrams L" first="Liane" last="Abrams">Liane Abrams</name><affiliation><mods:affiliation>National Fragile X Foundation, San Francisco, California</mods:affiliation></affiliation></author><author><name sortKey="Coffey, Sarah M" sort="Coffey, Sarah M" uniqKey="Coffey S" first="Sarah M." last="Coffey">Sarah M. Coffey</name><affiliation><mods:affiliation>Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California</mods:affiliation></affiliation><affiliation><mods:affiliation>MIND Institute, University of California at Davis Medical Center, Sacramento, California</mods:affiliation></affiliation></author><author><name sortKey="Hall, Deborah A" sort="Hall, Deborah A" uniqKey="Hall D" first="Deborah A." last="Hall">Deborah A. Hall</name><affiliation><mods:affiliation>Department of Neurology, University of Colorado Health Sciences Center, Denver, Colorado</mods:affiliation></affiliation></author><author><name sortKey="Greco, Claudia" sort="Greco, Claudia" uniqKey="Greco C" first="Claudia" last="Greco">Claudia Greco</name><affiliation><mods:affiliation>Department of Pathology, University of California, Davis School of Medicine, Davis, California</mods:affiliation></affiliation></author><author><name sortKey="Gane, Louise W" sort="Gane, Louise W" uniqKey="Gane L" first="Louise W." last="Gane">Louise W. Gane</name><affiliation><mods:affiliation>MIND Institute, University of California at Davis Medical Center, Sacramento, California</mods:affiliation></affiliation></author><author><name sortKey="Grigsby, Jim" sort="Grigsby, Jim" uniqKey="Grigsby J" first="Jim" last="Grigsby">Jim Grigsby</name><affiliation><mods:affiliation>Department of Medicine, University of Colorado Health Sciences Center, Denver, Colorado</mods:affiliation></affiliation></author><author><name sortKey="Bourgeois, James A" sort="Bourgeois, James A" uniqKey="Bourgeois J" first="James A." last="Bourgeois">James A. Bourgeois</name><affiliation><mods:affiliation>Department of Psychiatry and Behavioral Sciences, University of California, Davis Medical Center, Sacramento, California</mods:affiliation></affiliation></author><author><name sortKey="Finucane, Brenda" sort="Finucane, Brenda" uniqKey="Finucane B" first="Brenda" last="Finucane">Brenda Finucane</name><affiliation><mods:affiliation>Genetic Services, Elwyn Inc, Elwyn, Pennsylvania</mods:affiliation></affiliation></author><author><name sortKey="Jacquemont, Sebastien" sort="Jacquemont, Sebastien" uniqKey="Jacquemont S" first="Sebastien" last="Jacquemont">Sebastien Jacquemont</name><affiliation><mods:affiliation>Service de génétique Médicale, CHUV, Lausanne, Switzerland</mods:affiliation></affiliation></author><author><name sortKey="Brunberg, James A" sort="Brunberg, James A" uniqKey="Brunberg J" first="James A." last="Brunberg">James A. 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Hagerman</name><affiliation><mods:affiliation>Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine, Davis, California</mods:affiliation></affiliation></author><author><name sortKey="Hagerman, Randi J" sort="Hagerman, Randi J" uniqKey="Hagerman R" first="Randi J." last="Hagerman">Randi J. Hagerman</name><affiliation><mods:affiliation>Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California</mods:affiliation></affiliation><affiliation><mods:affiliation>MIND Institute, University of California at Davis Medical Center, Sacramento, California</mods:affiliation></affiliation></author><author><name sortKey="Leehey, Maureen A" sort="Leehey, Maureen A" uniqKey="Leehey M" first="Maureen A." last="Leehey">Maureen A. Leehey</name><affiliation><mods:affiliation>Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, Colorado</mods:affiliation></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="2007-10-31">2007-10-31</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">14</biblScope><biblScope unit="page" from="2018">2018</biblScope><biblScope unit="page" to="2030">2030</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">ECF405116C8CC59A46F47D8296A877E2B6CFC56F</idno><idno type="DOI">10.1002/mds.21493</idno><idno type="ArticleID">MDS21493</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>FMR1</term><term>ataxia</term><term>fragile X syndrome</term><term>fragile X‐associated tremor/ataxia syndrome</term><term>tremor</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 neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropathy, and dysautonomia. Magnetic Resonance Imaging studies in FXTAS demonstrate increased T2 signal intensity in the middle cerebellar peduncles (MCP sign) in the majority of patients. Similar signal alterations are seen in deep and subependymal cerebral white matter, as is general cortical and subcortical atrophy. The major neuropathological feature of FXTAS is the presence of intranuclear, neuronal, and astrocytic, inclusions in broad distribution throughout the brain and brainstem. FXTAS is caused by moderate expansions (55–200 repeats; premutation range) of a CGG trinucleotide in the fragile X mental retardation 1 (FMR1) gene, the same gene which causes fragile X syndrome when in the full mutation range (200 or greater CGG repeats). The pathogenic mechanism is related to overexpression and toxicity of the FMR1 mRNA per se. Although only recently discovered, and hence currently under‐diagnosed, FXTAS is likely to be one of the most common single‐gene disorders leading to neurodegeneration in males. In this report, we review information available on the clinical, radiological, and pathological features, and prevalence and management of FXTAS. We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made. © 2007 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Elizabeth Berry‐Kravis MD, PhD</name><affiliations><json:string>Department of Pediatrics, Rush University Medical Center, Chicago, Illinois</json:string><json:string>Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois</json:string><json:string>Department of Biochemistry, Rush University Medical Center, Chicago, Ilinois</json:string></affiliations></json:item><json:item><name>Liane Abrams MS, CGC</name><affiliations><json:string>National Fragile X Foundation, San Francisco, California</json:string></affiliations></json:item><json:item><name>Sarah M. Coffey MPH</name><affiliations><json:string>Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California</json:string><json:string>MIND Institute, University of California at Davis Medical Center, Sacramento, California</json:string></affiliations></json:item><json:item><name>Deborah A. Hall MD</name><affiliations><json:string>Department of Neurology, University of Colorado Health Sciences Center, Denver, Colorado</json:string></affiliations></json:item><json:item><name>Claudia Greco MD</name><affiliations><json:string>Department of Pathology, University of California, Davis School of Medicine, Davis, California</json:string></affiliations></json:item><json:item><name>Louise W. Gane MS</name><affiliations><json:string>MIND Institute, University of California at Davis Medical Center, Sacramento, California</json:string></affiliations></json:item><json:item><name>Jim Grigsby PhD</name><affiliations><json:string>Department of Medicine, University of Colorado Health Sciences Center, Denver, Colorado</json:string></affiliations></json:item><json:item><name>James A. Bourgeois OD, MD</name><affiliations><json:string>Department of Psychiatry and Behavioral Sciences, University of California, Davis Medical Center, Sacramento, California</json:string></affiliations></json:item><json:item><name>Brenda Finucane MS, CGC</name><affiliations><json:string>Genetic Services, Elwyn Inc, Elwyn, Pennsylvania</json:string></affiliations></json:item><json:item><name>Sebastien Jacquemont MD</name><affiliations><json:string>Service de génétique Médicale, CHUV, Lausanne, Switzerland</json:string></affiliations></json:item><json:item><name>James A. Brunberg MD</name><affiliations><json:string>Department of Radiology, University of California at Davis Medical Center, Sacramento, California</json:string></affiliations></json:item><json:item><name>Lin Zhang MD, PhD</name><affiliations><json:string>Department of Neurology, University of California at Davis School of Medicine, Sacramento, California</json:string></affiliations></json:item><json:item><name>Janet Lin MD</name><affiliations><json:string>Neurology Medical Group‐Diablo, Walnut Creek, California</json:string></affiliations></json:item><json:item><name>Flora Tassone PhD</name><affiliations><json:string>Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine, Davis, California</json:string></affiliations></json:item><json:item><name>Paul J. Hagerman MD, PhD</name><affiliations><json:string>Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine, Davis, California</json:string></affiliations></json:item><json:item><name>Randi J. Hagerman MD</name><affiliations><json:string>Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California</json:string><json:string>MIND Institute, University of California at Davis Medical Center, Sacramento, California</json:string></affiliations></json:item><json:item><name>Maureen A. Leehey MD</name><affiliations><json:string>Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, Colorado</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>fragile X‐associated tremor/ataxia syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>tremor</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>ataxia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>FMR1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>fragile X syndrome</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropathy, and dysautonomia. Magnetic Resonance Imaging studies in FXTAS demonstrate increased T2 signal intensity in the middle cerebellar peduncles (MCP sign) in the majority of patients. Similar signal alterations are seen in deep and subependymal cerebral white matter, as is general cortical and subcortical atrophy. The major neuropathological feature of FXTAS is the presence of intranuclear, neuronal, and astrocytic, inclusions in broad distribution throughout the brain and brainstem. FXTAS is caused by moderate expansions (55–200 repeats; premutation range) of a CGG trinucleotide in the fragile X mental retardation 1 (FMR1) gene, the same gene which causes fragile X syndrome when in the full mutation range (200 or greater CGG repeats). The pathogenic mechanism is related to overexpression and toxicity of the FMR1 mRNA per se. Although only recently discovered, and hence currently under‐diagnosed, FXTAS is likely to be one of the most common single‐gene disorders leading to neurodegeneration in males. In this report, we review information available on the clinical, radiological, and pathological features, and prevalence and management of FXTAS. We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made. © 2007 Movement Disorder Society</abstract><qualityIndicators><score>7.832</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1650</abstractCharCount><pdfWordCount>8387</pdfWordCount><pdfCharCount>54399</pdfCharCount><pdfPageCount>13</pdfPageCount><abstractWordCount>236</abstractWordCount></qualityIndicators><title>Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines</title><genre><json:string>Serial 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guidelines</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2007</date></publicationStmt><notesStmt><note>Centers for Disease Control and Prevention - No. U10/CCU925123;</note><note>NIH - No. HD36071; No. NS044299; No. HD02274; No. NS43532;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines</title><author><persName><forename type="first">Elizabeth</forename><surname>Berry‐Kravis</surname><roleName type="degree">MD, PhD</roleName></persName><note type="correspondence"><p>Correspondence: Rush University Medical Center, 1725 West Harrison, Suite 718, Chicago, IL 60612</p></note><affiliation>Department of Pediatrics, Rush University Medical Center, Chicago, Illinois</affiliation><affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois</affiliation><affiliation>Department of Biochemistry, Rush University Medical Center, Chicago, Ilinois</affiliation></author><author><persName><forename type="first">Liane</forename><surname>Abrams</surname><roleName type="degree">MS, CGC</roleName></persName><affiliation>National Fragile X Foundation, San Francisco, California</affiliation></author><author><persName><forename type="first">Sarah M.</forename><surname>Coffey</surname><roleName type="degree">MPH</roleName></persName><affiliation>Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California</affiliation><affiliation>MIND Institute, University of California at Davis Medical Center, Sacramento, California</affiliation></author><author><persName><forename type="first">Deborah A.</forename><surname>Hall</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, University of Colorado Health Sciences Center, Denver, Colorado</affiliation></author><author><persName><forename type="first">Claudia</forename><surname>Greco</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Pathology, University of California, Davis School of Medicine, Davis, California</affiliation></author><author><persName><forename type="first">Louise W.</forename><surname>Gane</surname><roleName type="degree">MS</roleName></persName><affiliation>MIND Institute, University of California at Davis Medical Center, Sacramento, California</affiliation></author><author><persName><forename type="first">Jim</forename><surname>Grigsby</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Medicine, University of Colorado Health Sciences Center, Denver, Colorado</affiliation></author><author><persName><forename type="first">James A.</forename><surname>Bourgeois</surname><roleName type="degree">OD, MD</roleName></persName><affiliation>Department of Psychiatry and Behavioral Sciences, University of California, Davis Medical Center, Sacramento, California</affiliation></author><author><persName><forename type="first">Brenda</forename><surname>Finucane</surname><roleName type="degree">MS, CGC</roleName></persName><affiliation>Genetic Services, Elwyn Inc, Elwyn, Pennsylvania</affiliation></author><author><persName><forename type="first">Sebastien</forename><surname>Jacquemont</surname><roleName type="degree">MD</roleName></persName><affiliation>Service de génétique Médicale, CHUV, Lausanne, Switzerland</affiliation></author><author><persName><forename type="first">James A.</forename><surname>Brunberg</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Radiology, University of California at Davis Medical Center, Sacramento, California</affiliation></author><author><persName><forename 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Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-10-31"></date><biblScope unit="vol">22</biblScope><biblScope unit="issue">14</biblScope><biblScope unit="page" from="2018">2018</biblScope><biblScope unit="page" to="2030">2030</biblScope></imprint></monogr><idno type="istex">ECF405116C8CC59A46F47D8296A877E2B6CFC56F</idno><idno type="DOI">10.1002/mds.21493</idno><idno type="ArticleID">MDS21493</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2007</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropathy, and dysautonomia. Magnetic Resonance Imaging studies in FXTAS demonstrate increased T2 signal intensity in the middle cerebellar peduncles (MCP sign) in the majority of patients. Similar signal alterations are seen in deep and subependymal cerebral white matter, as is general cortical and subcortical atrophy. The major neuropathological feature of FXTAS is the presence of intranuclear, neuronal, and astrocytic, inclusions in broad distribution throughout the brain and brainstem. FXTAS is caused by moderate expansions (55–200 repeats; premutation range) of a CGG trinucleotide in the fragile X mental retardation 1 (FMR1) gene, the same gene which causes fragile X syndrome when in the full mutation range (200 or greater CGG repeats). The pathogenic mechanism is related to overexpression and toxicity of the FMR1 mRNA per se. Although only recently discovered, and hence currently under‐diagnosed, FXTAS is likely to be one of the most common single‐gene disorders leading to neurodegeneration in males. In this report, we review information available on the clinical, radiological, and pathological features, and prevalence and management of FXTAS. We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made. © 2007 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>fragile X‐associated tremor/ataxia syndrome</term></item><item><term>tremor</term></item><item><term>ataxia</term></item><item><term>FMR1</term></item><item><term>fragile X syndrome</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Reviews</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2006-11-10">Received</change><change when="2007-03-03">Registration</change><change when="2007-10-31">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/ECF405116C8CC59A46F47D8296A877E2B6CFC56F/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. 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type="figureTotal" number="3"></count><count type="tableTotal" number="4"></count><count type="referenceTotal" number="97"></count><count type="wordTotal" number="9419"></count></countGroup><titleGroup><title type="main" xml:lang="en">Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines</title><title type="short" xml:lang="en">FXTAS: Features, Genetics, and Testing Guidelines</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2 #af3" corresponding="yes"><personName><givenNames>Elizabeth</givenNames><familyName>Berry‐Kravis</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email normalForm="Elizabeth_m_berry-kravis@rush.edu">Elizabeth_m_berry‐kravis@rush.edu</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Liane</givenNames><familyName>Abrams</familyName><degrees>MS, CGC</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af5 #af6"><personName><givenNames>Sarah M.</givenNames><familyName>Coffey</familyName><degrees>MPH</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Deborah A.</givenNames><familyName>Hall</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af8"><personName><givenNames>Claudia</givenNames><familyName>Greco</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Louise W.</givenNames><familyName>Gane</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af9"><personName><givenNames>Jim</givenNames><familyName>Grigsby</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au8" 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type="organization"><unparsedAffiliation>Department of Pediatrics, Rush University Medical Center, Chicago, Illinois</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Department of Biochemistry, Rush University Medical Center, Chicago, Ilinois</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>National Fragile X Foundation, San Francisco, California</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="US" type="organization"><unparsedAffiliation>MIND Institute, University of California at Davis Medical Center, Sacramento, California</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Colorado Health Sciences Center, Denver, Colorado</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="US" type="organization"><unparsedAffiliation>Department of Pathology, University of California, Davis School of Medicine, Davis, California</unparsedAffiliation></affiliation><affiliation xml:id="af9" countryCode="US" type="organization"><unparsedAffiliation>Department of Medicine, University of Colorado Health Sciences Center, Denver, Colorado</unparsedAffiliation></affiliation><affiliation xml:id="af10" countryCode="US" type="organization"><unparsedAffiliation>Department of Psychiatry and Behavioral Sciences, University of California, Davis Medical Center, Sacramento, California</unparsedAffiliation></affiliation><affiliation xml:id="af11" countryCode="US" type="organization"><unparsedAffiliation>Genetic Services, Elwyn Inc, Elwyn, Pennsylvania</unparsedAffiliation></affiliation><affiliation xml:id="af12" countryCode="CH" type="organization"><unparsedAffiliation>Service de génétique Médicale, CHUV, Lausanne, Switzerland</unparsedAffiliation></affiliation><affiliation xml:id="af13" countryCode="US" type="organization"><unparsedAffiliation>Department of Radiology, University of California at Davis Medical Center, Sacramento, California</unparsedAffiliation></affiliation><affiliation xml:id="af14" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of California at Davis School of Medicine, Sacramento, California</unparsedAffiliation></affiliation><affiliation xml:id="af15" countryCode="US" type="organization"><unparsedAffiliation>Neurology Medical Group‐Diablo, Walnut Creek, California</unparsedAffiliation></affiliation><affiliation xml:id="af16" countryCode="US" type="organization"><unparsedAffiliation>Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine, Davis, California</unparsedAffiliation></affiliation><affiliation xml:id="af17" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, Colorado</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">fragile X‐associated tremor/ataxia syndrome</keyword><keyword xml:id="kwd2">tremor</keyword><keyword xml:id="kwd3">ataxia</keyword><keyword xml:id="kwd4">FMR1</keyword><keyword xml:id="kwd5">fragile X syndrome</keyword></keywordGroup><fundingInfo><fundingAgency>Centers for Disease Control and Prevention</fundingAgency><fundingNumber>U10/CCU925123</fundingNumber></fundingInfo><fundingInfo><fundingAgency>NIH</fundingAgency><fundingNumber>HD36071</fundingNumber><fundingNumber>NS044299</fundingNumber><fundingNumber>HD02274</fundingNumber><fundingNumber>NS43532</fundingNumber></fundingInfo><supportingInformation><p> This article is part of the journal's CME program. The CME form can be found on page 2140 and is available online at <url href="http://www.movementdisorders.org/education/activities.html"> http://www.movementdisorders.org/education/activities.html </url> . This article includes supplementary video clips, available online at <url href="http://www.interscience.wiley.com/jpages/0885-3185/suppmat"> http://www.interscience.wiley.com/jpages/0885‐3185/suppmat </url> . </p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds21493:mds21493-MDS21493"></mediaResource><caption>Segment 1 (Patient 1) for the full video is shown here.Segment 1. Patient 1 (FMR1 CGG count 106) is a 68‐year‐old man with progressive tremor for 19 years, gait ataxia for 11 years, and cognitive deficits for 7 years. Video demonstrates his large amplitude action head and bilateral hand tremor (kinetic > postural), unsteady gait, difficulty with tandem, and tremulous handwriting and spiral drawing. He has slightly reduced facial expression and moderate upper extremity rigidity.Segment 2. Patient 2 (CGG count 112) is 66‐year‐old and is a brother of patient 1. He has had bilateral hand tremor for 16 years and no ataxia. He has mild executive function deficits. Video demonstrates his head and prominent arm tremor (kinetic > postural > rest) and lack of ataxia and parkinsonism.Segment 3. Patient 3 (CGG count 125) is a 77‐year‐old man with gait ataxia for 12 years, hand tremor for eight years, and executive function deficits for about 5 years. The video shows his upper extremity action tremor (kinetic > postural), inability to tandem and mild parkinsonism (diminished facial expression and lack of left arm swing). He leans to the right as he walks.</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropathy, and dysautonomia. Magnetic Resonance Imaging studies in FXTAS demonstrate increased T2 signal intensity in the middle cerebellar peduncles (MCP sign) in the majority of patients. Similar signal alterations are seen in deep and subependymal cerebral white matter, as is general cortical and subcortical atrophy. The major neuropathological feature of FXTAS is the presence of intranuclear, neuronal, and astrocytic, inclusions in broad distribution throughout the brain and brainstem. FXTAS is caused by moderate expansions (55–200 repeats; premutation range) of a CGG trinucleotide in the fragile X mental retardation 1 (<i>FMR1</i>) gene, the same gene which causes fragile X syndrome when in the full mutation range (200 or greater CGG repeats). The pathogenic mechanism is related to overexpression and toxicity of the <i>FMR1</i> mRNA per se. Although only recently discovered, and hence currently under‐diagnosed, FXTAS is likely to be one of the most common single‐gene disorders leading to neurodegeneration in males. In this report, we review information available on the clinical, radiological, and pathological features, and prevalence and management of FXTAS. We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made. © 2007 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>Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>FXTAS: Features, Genetics, and Testing Guidelines</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines</title></titleInfo><name type="personal"><namePart type="given">Elizabeth</namePart><namePart type="family">Berry‐Kravis</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Pediatrics, Rush University Medical Center, Chicago, Illinois</affiliation><affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois</affiliation><affiliation>Department of Biochemistry, Rush University Medical Center, Chicago, Ilinois</affiliation><description>Correspondence: Rush University Medical Center, 1725 West Harrison, Suite 718, Chicago, IL 60612</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Liane</namePart><namePart type="family">Abrams</namePart><namePart type="termsOfAddress">MS, CGC</namePart><affiliation>National Fragile X Foundation, San Francisco, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sarah M.</namePart><namePart type="family">Coffey</namePart><namePart type="termsOfAddress">MPH</namePart><affiliation>Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California</affiliation><affiliation>MIND Institute, University of California at Davis Medical Center, Sacramento, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Deborah A.</namePart><namePart type="family">Hall</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Colorado Health Sciences Center, Denver, Colorado</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Claudia</namePart><namePart type="family">Greco</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Pathology, University of California, Davis School of Medicine, Davis, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Louise W.</namePart><namePart type="family">Gane</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>MIND Institute, University of California at Davis Medical Center, Sacramento, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jim</namePart><namePart type="family">Grigsby</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Medicine, University of Colorado Health Sciences Center, Denver, Colorado</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">James A.</namePart><namePart type="family">Bourgeois</namePart><namePart type="termsOfAddress">OD, MD</namePart><affiliation>Department of Psychiatry and Behavioral Sciences, University of California, Davis Medical Center, Sacramento, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Brenda</namePart><namePart type="family">Finucane</namePart><namePart type="termsOfAddress">MS, CGC</namePart><affiliation>Genetic Services, Elwyn Inc, Elwyn, Pennsylvania</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sebastien</namePart><namePart type="family">Jacquemont</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service de génétique Médicale, CHUV, Lausanne, Switzerland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">James A.</namePart><namePart type="family">Brunberg</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Radiology, University of California at Davis Medical Center, Sacramento, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lin</namePart><namePart type="family">Zhang</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, University of California at Davis School of Medicine, Sacramento, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Janet</namePart><namePart type="family">Lin</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Neurology Medical Group‐Diablo, Walnut Creek, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Flora</namePart><namePart type="family">Tassone</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine, Davis, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paul J.</namePart><namePart type="family">Hagerman</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine, Davis, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Randi J.</namePart><namePart type="family">Hagerman</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California</affiliation><affiliation>MIND Institute, University of California at Davis Medical Center, Sacramento, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maureen A.</namePart><namePart type="family">Leehey</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, Colorado</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">reviewArticle</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-10-31</dateIssued><dateCaptured encoding="w3cdtf">2006-11-10</dateCaptured><dateValid encoding="w3cdtf">2007-03-03</dateValid><copyrightDate encoding="w3cdtf">2007</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="tables">4</extent><extent unit="references">97</extent><extent unit="words">9419</extent></physicalDescription><abstract lang="en">Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropathy, and dysautonomia. Magnetic Resonance Imaging studies in FXTAS demonstrate increased T2 signal intensity in the middle cerebellar peduncles (MCP sign) in the majority of patients. Similar signal alterations are seen in deep and subependymal cerebral white matter, as is general cortical and subcortical atrophy. The major neuropathological feature of FXTAS is the presence of intranuclear, neuronal, and astrocytic, inclusions in broad distribution throughout the brain and brainstem. FXTAS is caused by moderate expansions (55–200 repeats; premutation range) of a CGG trinucleotide in the fragile X mental retardation 1 (FMR1) gene, the same gene which causes fragile X syndrome when in the full mutation range (200 or greater CGG repeats). The pathogenic mechanism is related to overexpression and toxicity of the FMR1 mRNA per se. Although only recently discovered, and hence currently under‐diagnosed, FXTAS is likely to be one of the most common single‐gene disorders leading to neurodegeneration in males. In this report, we review information available on the clinical, radiological, and pathological features, and prevalence and management of FXTAS. We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made. © 2007 Movement Disorder Society</abstract><note type="funding">Centers for Disease Control and Prevention - No. U10/CCU925123; </note><note type="funding">NIH - No. HD36071; No. NS044299; No. HD02274; No. NS43532; </note><subject lang="en"><genre>Keywords</genre><topic>fragile X‐associated tremor/ataxia syndrome</topic><topic>tremor</topic><topic>ataxia</topic><topic>FMR1</topic><topic>fragile X syndrome</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><note type="content"> This article is part of the journal's CME program. The CME form can be found on page 2140 and is available online at http://www.movementdisorders.org/education/activities.html . This article includes supplementary video clips, available online at http://www.interscience.wiley.com/jpages/0885‐3185/suppmat .Supporting Info Item: Segment 1 (Patient 1) for the full video is shown here.Segment 1. Patient 1 (FMR1 CGG count 106) is a 68‐year‐old man with progressive tremor for 19 years, gait ataxia for 11 years, and cognitive deficits for 7 years. Video demonstrates his large amplitude action head and bilateral hand tremor (kinetic > postural), unsteady gait, difficulty with tandem, and tremulous handwriting and spiral drawing. He has slightly reduced facial expression and moderate upper extremity rigidity.Segment 2. Patient 2 (CGG count 112) is 66‐year‐old and is a brother of patient 1. He has had bilateral hand tremor for 16 years and no ataxia. He has mild executive function deficits. Video demonstrates his head and prominent arm tremor (kinetic > postural > rest) and lack of ataxia and parkinsonism.Segment 3. Patient 3 (CGG count 125) is a 77‐year‐old man with gait ataxia for 12 years, hand tremor for eight years, and executive function deficits for about 5 years. The video shows his upper extremity action tremor (kinetic > postural), inability to tandem and mild parkinsonism (diminished facial expression and lack of left arm swing). He leans to the right as he walks. - </note><subject><genre>article category</genre><topic>Reviews</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>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>14</number></detail><extent unit="pages"><start>2018</start><end>2030</end><total>13</total></extent></part></relatedItem><identifier type="istex">ECF405116C8CC59A46F47D8296A877E2B6CFC56F</identifier><identifier type="DOI">10.1002/mds.21493</identifier><identifier type="ArticleID">MDS21493</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2007 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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