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

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

Laura Kytövuori  1   2 , Jussi Sipilä  3   4 , Hiroshi Doi  5 , Anri Hurme-Niiranen  6   7 , Ari Siitonen  6   7 , Eriko Koshimizu  8 , Satoko Miyatake  8   9 , Naomichi Matsumoto  8 , Fumiaki Tanaka  5 , Kari Majamaa  6   7
Affiliations

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

Laura Kytövuori et al. NPJ Parkinsons Dis. .

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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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Detection of (AAGGG)exp in RFC1.
a Multiplex PCR of RFC1 and FBN1 shows no RFC1 PCR product in the region of interest in the three patients with PD (P1-P3) or CANVAS. The gel derives from the same experiment. b XL-PCR amplification of RFC1 carried out with Phire II Hot Start DNA polymerase. Lanes 1–4, healthy controls with normal fragment size variation; lanes 5–7, patients 1–3; lane 8, patient with CANVAS and biallelic (AAGGG)exp; lane 9, H2O. The gel derives from the same experiment. c Electropherogram resulting from repeat-primed PCR of patient 1 harboring the biallelic (AAGGG)exp and a control without the expansion.
See this image and copyright information in PMC

References

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