Profiling complex repeat expansions in RFC1 in Parkinson’s disease

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dc.citation.articleNumber108en_US
dc.citation.journalTitlenpj Parkinson's Diseaseen_US
dc.citation.volumeNumber10en_US
dc.contributor.authorAlvarez Jerez, Pilaren_US
dc.contributor.authorDaida, Kensukeen_US
dc.contributor.authorMiano-Burkhardt, Abigailen_US
dc.contributor.authorIwaki, Hirotakaen_US
dc.contributor.authorMalik, Lakshen_US
dc.contributor.authorCogan, Guillaumeen_US
dc.contributor.authorMakarious, Mary B.en_US
dc.contributor.authorSullivan, Roisinen_US
dc.contributor.authorVandrovcova, Janaen_US
dc.contributor.authorDing, Jinhuien_US
dc.contributor.authorGibbs, J. Raphaelen_US
dc.contributor.authorMarkham, Androoen_US
dc.contributor.authorNalls, Mike A.en_US
dc.contributor.authorKesharwani, Rupesh K.en_US
dc.contributor.authorSedlazeck, Fritz J.en_US
dc.contributor.authorCasey, Bradforden_US
dc.contributor.authorHardy, Johnen_US
dc.contributor.authorHoulden, Henryen_US
dc.contributor.authorBlauwendraat, Cornelisen_US
dc.contributor.authorSingleton, Andrew B.en_US
dc.contributor.authorBillingsley, Kimberley J.en_US
dc.date.accessioned2024-08-29T21:11:49Zen_US
dc.date.available2024-08-29T21:11:49Zen_US
dc.date.issued2024en_US
dc.description.abstractA biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within the gene RFC1 is a frequent cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and more recently, has been reported as a rare cause of Parkinson’s disease (PD) in the Finnish population. Here, we investigate the prevalence of RFC1 (AAGGG) expansions in PD patients of non-Finnish European ancestry in 1609 individuals from the Parkinson’s Progression Markers Initiative study. We identified four PD patients carrying the biallelic RFC1 (AAGGG) expansion and did not identify any carriers in controls.en_US
dc.identifier.citationAlvarez Jerez, P., Daida, K., Miano-Burkhardt, A., Iwaki, H., Malik, L., Cogan, G., Makarious, M. B., Sullivan, R., Vandrovcova, J., Ding, J., Gibbs, J. R., Markham, A., Nalls, M. A., Kesharwani, R. K., Sedlazeck, F. J., Casey, B., Hardy, J., Houlden, H., Blauwendraat, C., … Billingsley, K. J. (2024). Profiling complex repeat expansions in RFC1 in Parkinson’s disease. Npj Parkinson’s Disease, 10(1), 1–4. https://doi.org/10.1038/s41531-024-00723-0en_US
dc.identifier.digitals41531-024-00723-0en_US
dc.identifier.doihttps://doi.org/10.1038/s41531-024-00723-0en_US
dc.identifier.urihttps://hdl.handle.net/1911/117745en_US
dc.language.isoengen_US
dc.publisherSpringer Natureen_US
dc.rightsExcept where otherwise noted, this work is licensed under a Creative Commons Attribution (CC BY) license.  Permission to reuse, publish, or reproduce the work beyond the terms of the license or beyond the bounds of fair use or other exemptions to copyright law must be obtained from the copyright holder.en_US
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en_US
dc.titleProfiling complex repeat expansions in RFC1 in Parkinson’s diseaseen_US
dc.typeJournal articleen_US
dc.type.dcmiTexten_US
dc.type.publicationpublisher versionen_US
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