Profiling complex repeat expansions in RFC1 in Parkinson’s disease

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dc.citation.articleNumber108
dc.citation.journalTitlenpj Parkinson's Disease
dc.citation.volumeNumber10
dc.contributor.authorAlvarez Jerez, Pilar
dc.contributor.authorDaida, Kensuke
dc.contributor.authorMiano-Burkhardt, Abigail
dc.contributor.authorIwaki, Hirotaka
dc.contributor.authorMalik, Laksh
dc.contributor.authorCogan, Guillaume
dc.contributor.authorMakarious, Mary B.
dc.contributor.authorSullivan, Roisin
dc.contributor.authorVandrovcova, Jana
dc.contributor.authorDing, Jinhui
dc.contributor.authorGibbs, J. Raphael
dc.contributor.authorMarkham, Androo
dc.contributor.authorNalls, Mike A.
dc.contributor.authorKesharwani, Rupesh K.
dc.contributor.authorSedlazeck, Fritz J.
dc.contributor.authorCasey, Bradford
dc.contributor.authorHardy, John
dc.contributor.authorHoulden, Henry
dc.contributor.authorBlauwendraat, Cornelis
dc.contributor.authorSingleton, Andrew B.
dc.contributor.authorBillingsley, Kimberley J.
dc.date.accessioned2024-08-29T21:11:49Z
dc.date.available2024-08-29T21:11:49Z
dc.date.issued2024
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.
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/s41531-024-00723-0
dc.identifier.digitals41531-024-00723-0
dc.identifier.doihttps://doi.org/10.1038/s41531-024-00723-0
dc.identifier.urihttps://hdl.handle.net/1911/117745
dc.language.isoeng
dc.publisherSpringer Nature
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.
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titleProfiling complex repeat expansions in RFC1 in Parkinson’s disease
dc.typeJournal article
dc.type.dcmiText
dc.type.publicationpublisher version
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