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

Laura Kytövuori; Jussi Sipilä; Hiroshi Doi; Anri Hurme-Niiranen; Ari Siitonen; Eriko Koshimizu; Satoko Miyatake; Naomichi Matsumoto; Fumiaki Tanaka; Kari Majamaa

doi:10.1038/s41531-021-00275-7

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

NPJ Parkinsons Dis. 2022 Jan 10;8(1):6. doi: 10.1038/s41531-021-00275-7.

Authors

Laura Kytövuori^{1

2}, Jussi Sipilä^{3

4}, Hiroshi Doi⁵, Anri Hurme-Niiranen^{6

7}, Ari Siitonen^{6

7}, Eriko Koshimizu⁸, Satoko Miyatake^{8

9}, Naomichi Matsumoto⁸, Fumiaki Tanaka⁵, Kari Majamaa^{6

7}

Affiliations

¹ Research Unit of Clinical Neuroscience, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland. laura.kytovuori@oulu.fi.
² Department of Neurology, Oulu University Hospital, Oulu, Finland. laura.kytovuori@oulu.fi.
³ Clinical Neurosciences, University of Turku, Turku, Finland.
⁴ Department of Neurology, Siun Sote North Karelia Central Hospital, Joensuu, Finland.
⁵ Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
⁶ Research Unit of Clinical Neuroscience, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
⁷ Department of Neurology, Oulu University Hospital, Oulu, Finland.
⁸ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
⁹ Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.

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.