| Title | Profiling complex repeat expansions in RFC1 in Parkinson's disease. |
| Publication Type | Journal Article |
| Year of Publication | 2024 |
| Authors | Jerez, PAlvarez, Daida, K, Miano-Burkhardt, A, Iwaki, H, Malik, L, Cogan, G, Makarious, MB, Sullivan, R, Vandrovcova, J, Ding, J, J Gibbs, R, Markham, A, Nalls, MA, Kesharwani, RK, Sedlazeck, FJ, Casey, B, Hardy, J, Houlden, H, Blauwendraat, C, Singleton, AB, Billingsley, KJ |
| Journal | NPJ Parkinsons Dis |
| Volume | 10 |
| Issue | 1 |
| Pagination | 108 |
| Date Published | 2024 May 24 |
| ISSN | 2373-8057 |
| Abstract | A 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. |
| DOI | 10.1038/s41531-024-00723-0 |
| Alternate Journal | NPJ Parkinsons Dis |
| PubMed ID | 38789445 |
| PubMed Central ID | PMC11126591 |