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dc.contributor.authorLoesch, Danuta Z
dc.contributor.authorTassone, Flora
dc.contributor.authorMellick, George D
dc.contributor.authorHorne, Malcolm
dc.contributor.authorRubio, Justin P
dc.contributor.authorBui, Minh Q
dc.contributor.authorFrancis, David
dc.contributor.authorStorey, Elsdon
dc.date.accessioned2019-05-29T13:14:24Z
dc.date.available2019-05-29T13:14:24Z
dc.date.issued2018
dc.identifier.issn0885-3185
dc.identifier.doi10.1002/mds.27420
dc.identifier.urihttp://hdl.handle.net/10072/382214
dc.description.abstractBackground and Objective There is convincing evidence that small CGG expansion (41‐54 repeats): FMR1 “gray zone” alleles (GZ) contribute to the risk of parkinsonism in males, but there is insufficient corresponding data in females. This study intends to fill this gap. Methods We screened whole‐blood–derived DNA from a cohort of 601 females diagnosed with idiopathic PD, and from dry Guthrie blood spots from a local sample of 1,005 female newborns (population controls), for the size of the FMR1 CGG repeat using a PCR technique. Results We found a significant excess (8.2%) of GZ carriers compared with 5.2% in the control sample, with a P value of 0.009 for the difference in proportions. Conclusion FMR1 gray zone alleles are a significant risk factor for parkinsonism in females. These population data and occasional reports of FXTAS‐like or parkinsonian manifestations in carriers suggest possible mechanisms whereby the effects of these alleles synergize with the existing pathologies underpinning parkinsonism. © 2018 International Parkinson and Movement Disorder Society
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherJohn Wiley & Sons, Inc.
dc.publisher.placeUnited States
dc.relation.ispartofpagefrom1178
dc.relation.ispartofpageto1181
dc.relation.ispartofissue7
dc.relation.ispartofjournalResearch in Nursing and Health
dc.relation.ispartofvolume33
dc.subject.fieldofresearchClinical sciences
dc.subject.fieldofresearchSports science and exercise
dc.subject.fieldofresearchNeurosciences
dc.subject.fieldofresearchNursing not elsewhere classified
dc.subject.fieldofresearchcode3202
dc.subject.fieldofresearchcode4207
dc.subject.fieldofresearchcode3209
dc.subject.fieldofresearchcode420599
dc.subject.keywordsIncreased risk
dc.subject.keywordsFMR1 gene
dc.subject.keywordsGrey zone alleles
dc.subject.keywordsParkinson's disease
dc.subject.keywordsCarrier screening
dc.subject.keywordsIncreased risk
dc.titleEvidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.hasfulltextNo Full Text
gro.griffith.authorMellick, George


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