Intrafamilial variability in fragile X-associated tremor/ataxia syndrome.
Identifieur interne : 002E94 ( PubMed/Corpus ); précédent : 002E93; suivant : 002E95Intrafamilial variability in fragile X-associated tremor/ataxia syndrome.
Auteurs : Nils Peters ; Christoph Kamm ; Friedrich Asmus ; Elke Holinski-Feder ; Eduard Kraft ; Martin Dichgans ; Roland Brüning ; Thomas Gasser ; Kai BötzelSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- Atrophy, Cerebellum (pathology), DNA Mutational Analysis, Deep Brain Stimulation, Female, Follow-Up Studies, Fragile X Mental Retardation Protein (genetics), Fragile X Syndrome (diagnosis), Fragile X Syndrome (genetics), Fragile X Syndrome (therapy), Gait Apraxia (diagnosis), Gait Apraxia (genetics), Gait Apraxia (therapy), Genetic Variation (genetics), Humans, Magnetic Resonance Imaging, Male, Middle Aged, Neurologic Examination, Pedigree, Sex Factors, Spinocerebellar Degenerations (diagnosis), Spinocerebellar Degenerations (genetics), Spinocerebellar Degenerations (therapy), Tremor (diagnosis), Tremor (genetics), Tremor (therapy), Trinucleotide Repeats (genetics).
- 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.
DOI: 10.1002/mds.20673
PubMed: 16124012
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pubmed:16124012Le document en format XML
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last="Kraft">Eduard Kraft</name></author><author><name sortKey="Dichgans, Martin" sort="Dichgans, Martin" uniqKey="Dichgans M" first="Martin" last="Dichgans">Martin Dichgans</name></author><author><name sortKey="Bruning, Roland" sort="Bruning, Roland" uniqKey="Bruning R" first="Roland" last="Brüning">Roland Brüning</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Botzel, Kai" sort="Botzel, Kai" uniqKey="Botzel K" first="Kai" last="Bötzel">Kai Bötzel</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.20673</idno><idno type="RBID">pubmed:16124012</idno><idno type="pmid">16124012</idno><idno type="wicri:Area/PubMed/Corpus">002E94</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">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><nlm:affiliation>Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name></author><author><name sortKey="Asmus, Friedrich" sort="Asmus, Friedrich" uniqKey="Asmus F" first="Friedrich" last="Asmus">Friedrich Asmus</name></author><author><name sortKey="Holinski Feder, Elke" sort="Holinski Feder, Elke" uniqKey="Holinski Feder E" first="Elke" last="Holinski-Feder">Elke Holinski-Feder</name></author><author><name sortKey="Kraft, Eduard" sort="Kraft, Eduard" uniqKey="Kraft E" first="Eduard" last="Kraft">Eduard Kraft</name></author><author><name sortKey="Dichgans, Martin" sort="Dichgans, Martin" uniqKey="Dichgans M" first="Martin" last="Dichgans">Martin Dichgans</name></author><author><name sortKey="Bruning, Roland" sort="Bruning, Roland" uniqKey="Bruning R" first="Roland" last="Brüning">Roland Brüning</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Botzel, Kai" sort="Botzel, Kai" uniqKey="Botzel K" first="Kai" last="Bötzel">Kai Bötzel</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="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Atrophy</term><term>Cerebellum (pathology)</term><term>DNA Mutational Analysis</term><term>Deep Brain Stimulation</term><term>Female</term><term>Follow-Up Studies</term><term>Fragile X Mental Retardation Protein 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Factors</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><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16124012</PMID><DateCreated><Year>2006</Year><Month>01</Month><Day>19</Day></DateCreated><DateCompleted><Year>2006</Year><Month>07</Month><Day>03</Day></DateCompleted><DateRevised><Year>2008</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>21</Volume><Issue>1</Issue><PubDate><Year>2006</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Intrafamilial variability in fragile X-associated tremor/ataxia syndrome.</ArticleTitle><Pagination><MedlinePgn>98-102</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>Copyright (c) 2005 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Peters</LastName><ForeName>Nils</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kamm</LastName><ForeName>Christoph</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Asmus</LastName><ForeName>Friedrich</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Holinski-Feder</LastName><ForeName>Elke</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Kraft</LastName><ForeName>Eduard</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Dichgans</LastName><ForeName>Martin</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Brüning</LastName><ForeName>Roland</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Gasser</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Bötzel</LastName><ForeName>Kai</ForeName><Initials>K</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C497683">FMR1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>139135-51-6</RegistryNumber><NameOfSubstance UI="D051860">Fragile X Mental Retardation Protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001284">Atrophy</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002531">Cerebellum</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D046690">Deep Brain Stimulation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005500">Follow-Up Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" 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