Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease
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 wi...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2022-01-01
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| Series: | npj Parkinson's Disease |
| Online Access: | https://doi.org/10.1038/s41531-021-00275-7 |
| _version_ | 1797428762033258496 |
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| author | Laura Kytövuori Jussi Sipilä Hiroshi Doi Anri Hurme-Niiranen Ari Siitonen Eriko Koshimizu Satoko Miyatake Naomichi Matsumoto Fumiaki Tanaka Kari Majamaa |
| author_facet | Laura Kytövuori Jussi Sipilä Hiroshi Doi Anri Hurme-Niiranen Ari Siitonen Eriko Koshimizu Satoko Miyatake Naomichi Matsumoto Fumiaki Tanaka Kari Majamaa |
| author_sort | Laura Kytövuori |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T09:03:33Z |
| format | Article |
| id | doaj.art-d3653a1d4f0f47f3aab36057d58d5772 |
| institution | Directory Open Access Journal |
| issn | 2373-8057 |
| language | English |
| last_indexed | 2024-03-09T09:03:33Z |
| publishDate | 2022-01-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Parkinson's Disease |
| spelling | doaj.art-d3653a1d4f0f47f3aab36057d58d57722023-12-02T11:04:22ZengNature Portfolionpj Parkinson's Disease2373-80572022-01-01811410.1038/s41531-021-00275-7Biallelic expansion in RFC1 as a rare cause of Parkinson’s diseaseLaura Kytövuori0Jussi Sipilä1Hiroshi Doi2Anri Hurme-Niiranen3Ari Siitonen4Eriko Koshimizu5Satoko Miyatake6Naomichi Matsumoto7Fumiaki Tanaka8Kari Majamaa9Research Unit of Clinical Neuroscience, Medical Research Center Oulu, Oulu University Hospital and University of OuluClinical Neurosciences, University of TurkuDepartment of Neurology and Stroke Medicine, Yokohama City University Graduate School of MedicineResearch Unit of Clinical Neuroscience, Medical Research Center Oulu, Oulu University Hospital and University of OuluResearch Unit of Clinical Neuroscience, Medical Research Center Oulu, Oulu University Hospital and University of OuluDepartment of Human Genetics, Yokohama City University Graduate School of MedicineDepartment of Human Genetics, Yokohama City University Graduate School of MedicineDepartment of Human Genetics, Yokohama City University Graduate School of MedicineDepartment of Neurology and Stroke Medicine, Yokohama City University Graduate School of MedicineResearch Unit of Clinical Neuroscience, Medical Research Center Oulu, Oulu University Hospital and University of OuluAbstract 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.https://doi.org/10.1038/s41531-021-00275-7 |
| spellingShingle | Laura Kytövuori Jussi Sipilä Hiroshi Doi Anri Hurme-Niiranen Ari Siitonen Eriko Koshimizu Satoko Miyatake Naomichi Matsumoto Fumiaki Tanaka Kari Majamaa Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease npj 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 |
| url | https://doi.org/10.1038/s41531-021-00275-7 |
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