Alvarez Jerez, PilarDaida, KensukeMiano-Burkhardt, AbigailIwaki, HirotakaMalik, LakshCogan, GuillaumeMakarious, Mary B.Sullivan, RoisinVandrovcova, JanaDing, JinhuiGibbs, J. RaphaelMarkham, AndrooNalls, Mike A.Kesharwani, Rupesh K.Sedlazeck, Fritz J.Casey, BradfordHardy, JohnHoulden, HenryBlauwendraat, CornelisSingleton, Andrew B.Billingsley, Kimberley J.2024-08-292024-08-292024Alvarez 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/s41531-024-00723-0https://hdl.handle.net/1911/117745A 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.engExcept 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.Journal articles41531-024-00723-0https://doi.org/10.1038/s41531-024-00723-0