University of Oulu

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).

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

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Author: Kytövuori, Laura1,2; Sipilä, Jussi3,4; Doi, Hiroshi5;
Organizations: 1Research Unit of Clinical Neuroscience, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland
2Department of Neurology, Oulu University Hospital, Oulu, Finland
3Clinical Neurosciences, University of Turku, Turku, Finland
4Department of Neurology, Siun Sote North Karelia Central Hospital, Joensuu, Finland
5Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan
6Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
7Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.7 MB)
Persistent link:
Language: English
Published: Springer Nature, 2022
Publish Date: 2022-08-02


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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Series: npj Parkinson's disease
ISSN: 2373-8057
ISSN-E: 2373-8057
ISSN-L: 2373-8057
Volume: 8
Issue: 1
Article number: 6
DOI: 10.1038/s41531-021-00275-7
Type of Publication: A1 Journal article – refereed
Field of Science: 3124 Neurology and psychiatry
3111 Biomedicine
Funding: This study was funded by grants from Sigrid Jusélius Foundation, from Yrjö Jahnsson Foundation and from Finnish Parkinson Foundation. The study received funding from Medical Research Center Oulu and state research funding from Oulu University Hospital. Part of the work was carried out with the support of Biocenter Oulu Sequencing Center, University of Oulu, Finland.
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