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FMR1 premutations may be associated with a wider spectrum of phenotypes

2011-09Other Open access
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dc.contributor.authorSeixas, Ana
dc.contributor.authorVale, José
dc.contributor.authorMartins, Márcia
dc.contributor.authorLoureiro, Joana
dc.contributor.authorJorge, Paula
dc.contributor.authorMaques, Isabel
dc.contributor.authorSantos, Rosário
dc.contributor.authorCoutinho, Paula
dc.contributor.authorMargolis, Russell
dc.contributor.authorSequeiros, Jorge
dc.contributor.authorSilveira, Isabel
dc.date.accessioned2012-02-27T15:18:29Z
dc.date.available2012-02-27T15:18:29Z
dc.date.issued2011-09
dc.description.abstractThe fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5’UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assessed CGG repeat size in males with disease onset after the age of 50 and negative or unknown family history for late-onset movement disorders, who were sent for SCA, HD, or PD genetic testing at a reference laboratory. The selected patients had a primary clinical diagnosis based on one of the following cardinal features of FXTAS: ataxia, tremor, or cognitive decline.por
dc.description.sponsorshipFunding was providded by FCT, Grant number: PIC/IC/82897/2007por
dc.identifier.citation15th International Workshop on Fragile X and Other Early-Onset Cognitive Disorders, 2011:74por
dc.identifier.urihttp://hdl.handle.net/10400.18/655
dc.language.isoengpor
dc.publisherMR Workshoppor
dc.relationImplicações clínicas dos factores genéticos envolvidos em doenças neurodegenerativas caracterizadas por alterações do movimento ou cognitivas
dc.subjectDoenças Genéticaspor
dc.subjectFXTASpor
dc.titleFMR1 premutations may be associated with a wider spectrum of phenotypespor
dc.typeother
dspace.entity.typePublication
oaire.awardTitleImplicações clínicas dos factores genéticos envolvidos em doenças neurodegenerativas caracterizadas por alterações do movimento ou cognitivas
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5876-PPCDTI/PIC%2FIC%2F82897%2F2007/PT
oaire.citation.conferencePlaceBerlin, Germanypor
oaire.citation.startPage74por
oaire.citation.title15th International Workshop on Fragile X and Other Early-Onset Cognitive Disorders, 4-7 September 2011por
oaire.fundingStream5876-PPCDTI
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspor
rcaap.typeotherpor
relation.isProjectOfPublicationc4aaa4ae-0652-45e0-93cb-97640e3a5bf4
relation.isProjectOfPublication.latestForDiscoveryc4aaa4ae-0652-45e0-93cb-97640e3a5bf4

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