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

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dc.contributor.authorKytövuori Laura
dc.contributor.authorSipilä Jussi
dc.contributor.authorDoi Hiroshi
dc.contributor.authorHurme-Niiranen Anri
dc.contributor.authorSiitonen Ari
dc.contributor.authorKoshimizu Eriko
dc.contributor.authorMiyatake Satoko
dc.contributor.authorMatsumoto Naomichi
dc.contributor.authorTanaka Fumiaki
dc.contributor.authorMajamaa Kari
dc.contributor.organizationfi=kliiniset neurotieteet|en=Clinical Neurosciences|
dc.contributor.organizationfi=tyks, vsshp|en=tyks, varha|
dc.contributor.organization-code1.2.246.10.2458963.20.74845969893
dc.converis.publication-id174780807
dc.converis.urlhttps://research.utu.fi/converis/portal/Publication/174780807
dc.date.accessioned2022-10-28T14:20:48Z
dc.date.available2022-10-28T14:20:48Z
dc.description.abstractAn 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.
dc.identifier.jour-issn2373-8057
dc.identifier.olddbid187722
dc.identifier.oldhandle10024/170816
dc.identifier.urihttps://www.utupub.fi/handle/11111/43229
dc.identifier.urlhttps://www.nature.com/articles/s41531-021-00275-7
dc.identifier.urnURN:NBN:fi-fe2022081154956
dc.language.isoen
dc.okm.affiliatedauthorSipilä, Jussi
dc.okm.affiliatedauthorDataimport, tyks, vsshp
dc.okm.discipline3124 Neurology and psychiatryen_GB
dc.okm.discipline3124 Neurologia ja psykiatriafi_FI
dc.okm.internationalcopublicationinternational co-publication
dc.okm.internationalityInternational publication
dc.okm.typeA1 ScientificArticle
dc.publisherNATURE PORTFOLIO
dc.publisher.countryGermanyen_GB
dc.publisher.countrySaksafi_FI
dc.publisher.country-codeDE
dc.relation.articlenumber6
dc.relation.doi10.1038/s41531-021-00275-7
dc.relation.ispartofjournalNPJ Parkinson's disease
dc.relation.volume8
dc.source.identifierhttps://www.utupub.fi/handle/10024/170816
dc.titleBiallelic expansion in RFC1 as a rare cause of Parkinson's disease
dc.year.issued2022

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