Biallelic expansion in <em>RFC1</em> as a rare cause of Parkinson’s disease
Kytövuori, Laura; Sipilä, Jussi; Doi, Hiroshi; Hurme-Niiranen, Anri; Siitonen, Ari; Koshimizu, Eriko; Miyatake, Satoko; Matsumoto, Naomichi; Tanaka, Fumiaki; Majamaa, Kari (2022-01-10)
Springer Nature
10.01.2022
Kytövuori, L., Sipilä, J., Doi, H. et al. Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease. npj Parkinsons Dis. 8, 6 (2022). https://doi.org/10.1038/s41531-021-00275-7
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© The Author(s) 2022. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
https://creativecommons.org/licenses/by/4.0/
© The Author(s) 2022. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
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Julkaisun pysyvä osoite on
https://urn.fi/URN:NBN:fi-fe2022050332237
https://urn.fi/URN:NBN:fi-fe2022050332237
Tiivistelmä
Abstract
An intronic expansion (AAGGG)exp in the RFC1 gene has recently been shown to cause recessively inherited cerebellar ataxia, neuropathy, and vestibular areflexia syndrome and, furthermore, a few patients with ataxia and parkinsonism have been reported. We investigated 569 Finnish patients with medicated parkinsonism for RFC1 and found biallelic (AAGGG)exp in three non-consanguineous patients with clinically confirmed Parkinson’s disease without ataxia suggesting that RFC1-related disorders include Parkinson’s disease as well.
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