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FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

2011-06Artigo científico Acesso aberto
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dc.contributor.authorSeixas, Ana
dc.contributor.authorVale, José
dc.contributor.authorJorge, Paula
dc.contributor.authorMarques, Isabel
dc.contributor.authorSantos, Rosário
dc.contributor.authorAlonso, Isabel
dc.contributor.authorFortuna, Ana
dc.contributor.authorPinto-Basto, Jorge
dc.contributor.authorCoutinho, Paula
dc.contributor.authorMargolis, Russell
dc.contributor.authorSequeiros, Jorge
dc.contributor.authorSilveira, Isabel
dc.date.accessioned2012-03-13T17:01:38Z
dc.date.available2012-03-13T17:01:38Z
dc.date.issued2011-06
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. A total of 86 subjects were genotyped for the CGG repeat in the FMR1 gene. We detected one patient with an expansion in the premutation range. The frequency of FMR1 premutations was 1.9% (1/54) in our group of patients with ataxia as the primary clinical feature, and 1.2% (1/86) in the larger movement disorders group. In the family of the FXTAS case, premutation-transmitting females presented a history of psychiatric symptoms, suggesting that, given the wide phenotypical expression of the premutation in females, neuropsychiatric surveillance is necessary. In conclusion, genetic testing for FXTAS should be made available to patients with adult-onset movement disorders to enable adequate genetic counseling to family members.por
dc.description.sponsorshipFCTpor
dc.identifier.citationBehav Brain Funct. 2011 Jun 3;7:19por
dc.identifier.issn1744-9081
dc.identifier.otherdoi:10.1186/1744-9081-7-19
dc.identifier.urihttp://hdl.handle.net/10400.18/739
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherBioMed Centralpor
dc.relationImplicações clínicas dos factores genéticos envolvidos em doenças neurodegenerativas caracterizadas por alterações do movimento ou cognitivas
dc.relation.publisherversionhttp://www.behavioralandbrainfunctions.com/content/7/1/19por
dc.subjectFXTASpor
dc.subjectFXSpor
dc.subjectDoenças Genéticaspor
dc.titleFXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypespor
dc.typejournal article
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.endPage24por
oaire.citation.startPage19por
oaire.citation.titleBehavioral and Brain Functionspor
oaire.fundingStream5876-PPCDTI
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspor
rcaap.typearticlepor
relation.isProjectOfPublicationc4aaa4ae-0652-45e0-93cb-97640e3a5bf4
relation.isProjectOfPublication.latestForDiscoveryc4aaa4ae-0652-45e0-93cb-97640e3a5bf4

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