期刊
NPJ PARKINSONS DISEASE
卷 8, 期 1, 页码 -出版社
NATURE PORTFOLIO
DOI: 10.1038/s41531-021-00275-7
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资金
- Sigrid Juselius Foundation
- Yrjo Jahnsson Foundation
- Finnish Parkinson Foundation
- Medical Research Center Oulu
- Oulu University Hospital
- Biocenter Oulu Sequencing Center, University of Oulu, Finland
An intronic expansion in the RFC1 gene has been shown to cause cerebellar ataxia, neuropathy, and vestibular areflexia syndrome. This study found that the expansion is also present in some patients with 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 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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