Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease

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 medi...

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Autores principales: Kytövuori, Laura, Sipilä, Jussi, Doi, Hiroshi, Hurme-Niiranen, Anri, Siitonen, Ari, Koshimizu, Eriko, Miyatake, Satoko, Matsumoto, Naomichi, Tanaka, Fumiaki, Majamaa, Kari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8748909/
https://www.ncbi.nlm.nih.gov/pubmed/35013364
http://dx.doi.org/10.1038/s41531-021-00275-7
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author Kytövuori, Laura
Sipilä, Jussi
Doi, Hiroshi
Hurme-Niiranen, Anri
Siitonen, Ari
Koshimizu, Eriko
Miyatake, Satoko
Matsumoto, Naomichi
Tanaka, Fumiaki
Majamaa, Kari
author_facet Kytövuori, Laura
Sipilä, Jussi
Doi, Hiroshi
Hurme-Niiranen, Anri
Siitonen, Ari
Koshimizu, Eriko
Miyatake, Satoko
Matsumoto, Naomichi
Tanaka, Fumiaki
Majamaa, Kari
author_sort Kytövuori, Laura
collection PubMed
description 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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spelling pubmed-87489092022-01-20 Biallelic expansion in RFC1 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 NPJ Parkinsons Dis Brief Communication 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. Nature Publishing Group UK 2022-01-10 /pmc/articles/PMC8748909/ /pubmed/35013364 http://dx.doi.org/10.1038/s41531-021-00275-7 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access 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/) .
spellingShingle Brief Communication
Kytövuori, Laura
Sipilä, Jussi
Doi, Hiroshi
Hurme-Niiranen, Anri
Siitonen, Ari
Koshimizu, Eriko
Miyatake, Satoko
Matsumoto, Naomichi
Tanaka, Fumiaki
Majamaa, Kari
Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease
title Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease
title_full Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease
title_fullStr Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease
title_full_unstemmed Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease
title_short Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease
title_sort biallelic expansion in rfc1 as a rare cause of parkinson’s disease
topic Brief Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8748909/
https://www.ncbi.nlm.nih.gov/pubmed/35013364
http://dx.doi.org/10.1038/s41531-021-00275-7
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