Fragile X‐associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat
Identifieur interne : 002B09 ( Istex/Curation ); précédent : 002B08; suivant : 002B10Fragile X‐associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat
Auteurs : Leonardo P. Capelli [Brésil] ; Márcia R. R. Gonçalves [Brésil] ; Fernando Kok [Brésil] ; Cláudia C. Leite [Brésil] ; Ricardo Nitrini [Brésil] ; Egberto R. Barbosa [Brésil] ; Angela M. Vianna-Morgante [Brésil]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-04-30.
English descriptors
Abstract
Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the FMR1 gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)123, (CGG)109, and (CGG)91 triplets, respectively. Based on previously proposed diagnostic criteria for the syndrome, clinical and radiological data allowed establishing a “definite” diagnosis of FXTAS in the two carriers of the longest (CGG)n. The carrier of the (CGG)91 allele, although presenting a major radiological sign of the syndrome (symmetrical white‐matter lesions in the middle cerebellar peduncles), did not have any significant neurological manifestation at 73 years of age. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21347
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002B09
Links to Exploration step
ISTEX:E4C6D6CDF2211BA5C5821C516751F2CC550B791CLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Fragile X‐associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat</title><author><name sortKey="Capelli, Leonardo P" sort="Capelli, Leonardo P" uniqKey="Capelli L" first="Leonardo P." last="Capelli">Leonardo P. Capelli</name><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Goncalves, Marcia R R" sort="Goncalves, Marcia R R" uniqKey="Goncalves M" first="Márcia R. R." last="Gonçalves">Márcia R. R. Gonçalves</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, School of Medicine, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Kok, Fernando" sort="Kok, Fernando" uniqKey="Kok F" first="Fernando" last="Kok">Fernando Kok</name><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, School of Medicine, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Leite, Claudia C" sort="Leite, Claudia C" uniqKey="Leite C" first="Cláudia C." last="Leite">Cláudia C. Leite</name><affiliation wicri:level="1"><mods:affiliation>Department of Radiology, School of Medicine, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Radiology, School of Medicine, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Nitrini, Ricardo" sort="Nitrini, Ricardo" uniqKey="Nitrini R" first="Ricardo" last="Nitrini">Ricardo Nitrini</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, School of Medicine, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Barbosa, Egberto R" sort="Barbosa, Egberto R" uniqKey="Barbosa E" first="Egberto R." last="Barbosa">Egberto R. Barbosa</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, School of Medicine, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Vianna Organte, Angela M" sort="Vianna Organte, Angela M" uniqKey="Vianna Organte A" first="Angela M." last="Vianna-Morgante">Angela M. Vianna-Morgante</name><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:E4C6D6CDF2211BA5C5821C516751F2CC550B791C</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21347</idno><idno type="url">https://api.istex.fr/document/E4C6D6CDF2211BA5C5821C516751F2CC550B791C/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002B09</idno><idno type="wicri:Area/Istex/Curation">002B09</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Fragile X‐associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat</title><author><name sortKey="Capelli, Leonardo P" sort="Capelli, Leonardo P" uniqKey="Capelli L" first="Leonardo P." last="Capelli">Leonardo P. Capelli</name><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Goncalves, Marcia R R" sort="Goncalves, Marcia R R" uniqKey="Goncalves M" first="Márcia R. R." last="Gonçalves">Márcia R. R. Gonçalves</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, School of Medicine, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Kok, Fernando" sort="Kok, Fernando" uniqKey="Kok F" first="Fernando" last="Kok">Fernando Kok</name><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, School of Medicine, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Leite, Claudia C" sort="Leite, Claudia C" uniqKey="Leite C" first="Cláudia C." last="Leite">Cláudia C. Leite</name><affiliation wicri:level="1"><mods:affiliation>Department of Radiology, School of Medicine, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Radiology, School of Medicine, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Nitrini, Ricardo" sort="Nitrini, Ricardo" uniqKey="Nitrini R" first="Ricardo" last="Nitrini">Ricardo Nitrini</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, School of Medicine, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Barbosa, Egberto R" sort="Barbosa, Egberto R" uniqKey="Barbosa E" first="Egberto R." last="Barbosa">Egberto R. Barbosa</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, School of Medicine, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Vianna Organte, Angela M" sort="Vianna Organte, Angela M" uniqKey="Vianna Organte A" first="Angela M." last="Vianna-Morgante">Angela M. Vianna-Morgante</name><affiliation wicri:level="1"><mods:affiliation>Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</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="2007-04-30">2007-04-30</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="866">866</biblScope><biblScope unit="page" to="870">870</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">E4C6D6CDF2211BA5C5821C516751F2CC550B791C</idno><idno type="DOI">10.1002/mds.21347</idno><idno type="ArticleID">MDS21347</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>FMR1 gene</term><term>FXTAS</term><term>fragile X premutation</term><term>tremor/ataxia 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 neurological progressive disorder associated with the FMR1 gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)123, (CGG)109, and (CGG)91 triplets, respectively. Based on previously proposed diagnostic criteria for the syndrome, clinical and radiological data allowed establishing a “definite” diagnosis of FXTAS in the two carriers of the longest (CGG)n. The carrier of the (CGG)91 allele, although presenting a major radiological sign of the syndrome (symmetrical white‐matter lesions in the middle cerebellar peduncles), did not have any significant neurological manifestation at 73 years of age. © 2007 Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002B09 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 002B09 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Curation
|type= RBID
|clé= ISTEX:E4C6D6CDF2211BA5C5821C516751F2CC550B791C
|texte= Fragile X‐associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat
}}
| This area was generated with Dilib version V0.6.23. |  |