Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.
Identifieur interne : 002596 ( PubMed/Corpus ); précédent : 002595; suivant : 002597Fragile 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 : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Ataxia (genetics), Ataxia (pathology), Ataxia (physiopathology), Family Health, Female, Fragile X Syndrome (genetics), Fragile X Syndrome (pathology), Fragile X Syndrome (physiopathology), Genetic Testing, Guidelines as Topic (standards), Humans, Magnetic Resonance Imaging (methods), Male, Sex Factors, Tremor (genetics), Tremor (pathology), Tremor (physiopathology).
- MESH :
- genetics : Ataxia, Fragile X Syndrome, Tremor.
- methods : Magnetic Resonance Imaging.
- pathology : Ataxia, Fragile X Syndrome, Tremor.
- physiopathology : Ataxia, Fragile X Syndrome, Tremor.
- standards : Guidelines as Topic.
- Family Health, Female, Genetic Testing, Humans, Male, Sex Factors.
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.
DOI: 10.1002/mds.21493
PubMed: 17618523
Links to Exploration step
pubmed:17618523Le document en format XML
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Hall</name></author><author><name sortKey="Greco, Claudia" sort="Greco, Claudia" uniqKey="Greco C" first="Claudia" last="Greco">Claudia Greco</name></author><author><name sortKey="Gane, Louise W" sort="Gane, Louise W" uniqKey="Gane L" first="Louise W" last="Gane">Louise W. Gane</name></author><author><name sortKey="Grigsby, Jim" sort="Grigsby, Jim" uniqKey="Grigsby J" first="Jim" last="Grigsby">Jim Grigsby</name></author><author><name sortKey="Bourgeois, James A" sort="Bourgeois, James A" uniqKey="Bourgeois J" first="James A" last="Bourgeois">James A. 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Leehey</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21493</idno><idno type="RBID">pubmed:17618523</idno><idno type="pmid">17618523</idno><idno type="wicri:Area/PubMed/Corpus">002596</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.</title><author><name sortKey="Berry Kravis, Elizabeth" sort="Berry Kravis, Elizabeth" uniqKey="Berry Kravis E" first="Elizabeth" last="Berry-Kravis">Elizabeth Berry-Kravis</name><affiliation><nlm:affiliation>Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA. Elizabeth_m_berry-kravis@rush.edu</nlm:affiliation></affiliation></author><author><name sortKey="Abrams, Liane" sort="Abrams, Liane" uniqKey="Abrams L" first="Liane" last="Abrams">Liane Abrams</name></author><author><name sortKey="Coffey, Sarah M" sort="Coffey, Sarah M" uniqKey="Coffey S" first="Sarah M" last="Coffey">Sarah M. Coffey</name></author><author><name sortKey="Hall, Deborah A" sort="Hall, Deborah A" uniqKey="Hall D" first="Deborah A" last="Hall">Deborah A. Hall</name></author><author><name sortKey="Greco, Claudia" sort="Greco, Claudia" uniqKey="Greco C" first="Claudia" last="Greco">Claudia Greco</name></author><author><name sortKey="Gane, Louise W" sort="Gane, Louise W" uniqKey="Gane L" first="Louise W" last="Gane">Louise W. Gane</name></author><author><name sortKey="Grigsby, Jim" sort="Grigsby, Jim" uniqKey="Grigsby J" first="Jim" last="Grigsby">Jim Grigsby</name></author><author><name sortKey="Bourgeois, James A" sort="Bourgeois, James A" uniqKey="Bourgeois J" first="James A" last="Bourgeois">James A. Bourgeois</name></author><author><name sortKey="Finucane, Brenda" sort="Finucane, Brenda" uniqKey="Finucane B" first="Brenda" last="Finucane">Brenda Finucane</name></author><author><name sortKey="Jacquemont, Sebastien" sort="Jacquemont, Sebastien" uniqKey="Jacquemont S" first="Sebastien" last="Jacquemont">Sebastien Jacquemont</name></author><author><name sortKey="Brunberg, James A" sort="Brunberg, James A" uniqKey="Brunberg J" first="James A" last="Brunberg">James A. Brunberg</name></author><author><name sortKey="Zhang, Lin" sort="Zhang, Lin" uniqKey="Zhang L" first="Lin" last="Zhang">Lin Zhang</name></author><author><name sortKey="Lin, Janet" sort="Lin, Janet" uniqKey="Lin J" first="Janet" last="Lin">Janet Lin</name></author><author><name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name></author><author><name sortKey="Hagerman, Paul J" sort="Hagerman, Paul J" uniqKey="Hagerman P" first="Paul J" last="Hagerman">Paul J. Hagerman</name></author><author><name sortKey="Hagerman, Randi J" sort="Hagerman, Randi J" uniqKey="Hagerman R" first="Randi J" last="Hagerman">Randi J. Hagerman</name></author><author><name sortKey="Leehey, Maureen A" sort="Leehey, Maureen A" uniqKey="Leehey M" first="Maureen A" last="Leehey">Maureen A. Leehey</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia (genetics)</term><term>Ataxia (pathology)</term><term>Ataxia (physiopathology)</term><term>Family Health</term><term>Female</term><term>Fragile X Syndrome (genetics)</term><term>Fragile X Syndrome (pathology)</term><term>Fragile X Syndrome (physiopathology)</term><term>Genetic Testing</term><term>Guidelines as Topic (standards)</term><term>Humans</term><term>Magnetic Resonance Imaging (methods)</term><term>Male</term><term>Sex Factors</term><term>Tremor (genetics)</term><term>Tremor (pathology)</term><term>Tremor (physiopathology)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia</term><term>Fragile X Syndrome</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Ataxia</term><term>Fragile X Syndrome</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Ataxia</term><term>Fragile X Syndrome</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="standards" xml:lang="en"><term>Guidelines as Topic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Family Health</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Male</term><term>Sex Factors</term></keywords></textClass></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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17618523</PMID><DateCreated><Year>2007</Year><Month>11</Month><Day>05</Day></DateCreated><DateCompleted><Year>2008</Year><Month>02</Month><Day>01</Day></DateCompleted><DateRevised><Year>2015</Year><Month>05</Month><Day>26</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>14</Issue><PubDate><Year>2007</Year><Month>Oct</Month><Day>31</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.</ArticleTitle><Pagination><MedlinePgn>2018-30, quiz 2140</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>(c) 2007 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Berry-Kravis</LastName><ForeName>Elizabeth</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA. Elizabeth_m_berry-kravis@rush.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Abrams</LastName><ForeName>Liane</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Coffey</LastName><ForeName>Sarah M</ForeName><Initials>SM</Initials></Author><Author ValidYN="Y"><LastName>Hall</LastName><ForeName>Deborah A</ForeName><Initials>DA</Initials></Author><Author ValidYN="Y"><LastName>Greco</LastName><ForeName>Claudia</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Gane</LastName><ForeName>Louise W</ForeName><Initials>LW</Initials></Author><Author ValidYN="Y"><LastName>Grigsby</LastName><ForeName>Jim</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Bourgeois</LastName><ForeName>James A</ForeName><Initials>JA</Initials></Author><Author ValidYN="Y"><LastName>Finucane</LastName><ForeName>Brenda</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Jacquemont</LastName><ForeName>Sebastien</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Brunberg</LastName><ForeName>James A</ForeName><Initials>JA</Initials></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Lin</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Lin</LastName><ForeName>Janet</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Tassone</LastName><ForeName>Flora</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Hagerman</LastName><ForeName>Paul J</ForeName><Initials>PJ</Initials></Author><Author ValidYN="Y"><LastName>Hagerman</LastName><ForeName>Randi J</ForeName><Initials>RJ</Initials></Author><Author ValidYN="Y"><LastName>Leehey</LastName><ForeName>Maureen A</ForeName><Initials>MA</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R01 NS044299</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001259">Ataxia</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005192">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005600">Fragile X Syndrome</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017408">Guidelines as Topic</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000592">standards</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012737">Sex Factors</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014202">Tremor</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading></MeshHeadingList><NumberOfReferences>97</NumberOfReferences></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>7</Month><Day>10</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2008</Year><Month>2</Month><Day>2</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>7</Month><Day>10</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21493</ArticleId><ArticleId 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