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The clinical spectrum of RFC1 disease has expanded since the first identification of biallelic (AAGGG)<jats:sub>exp<\/jats:sub> and includes now various nonclassical phenotypes. Biallelic (AAGGG)<jats:sub>exp<\/jats:sub> in <jats:italic>RFC1<\/jats:italic> in patients with clinically confirmed Parkinson's disease (PD) has recently been found.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A nationwide cohort of 273 Finnish patients with early\u2010onset PD was examined for the biallelic intronic expansion in <jats:italic>RFC1.<\/jats:italic> The expansion (AAGGG)<jats:sub>exp<\/jats:sub> was first screened using extra long polymerase chain reactions (Extra Large\u2010PCRs) and flanking multiplex PCR. The presence of biallelic (AAGGG)<jats:sub>exp<\/jats:sub> was then confirmed by repeat\u2010primed PCR and, finally, the repeat length was determined by long\u2010read sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three patients were found with the biallelic (AAGGG)<jats:sub>exp<\/jats:sub> in <jats:italic>RFC1<\/jats:italic> giving a frequency of 1.10% (0.23%\u20133.18%; 95% confidence interval). The three patients fulfilled the diagnostic criteria of PD, none of them had ataxia or neuropathy, and only one patient had a mild vestibular dysfunction. The age at onset of PD symptoms was 40\u201348\u2009years and their disease course had been unremarkable apart from the early onset.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our results suggest that (AAGGG)<jats:sub>exp<\/jats:sub> in <jats:italic>RFC1<\/jats:italic> is a rare cause of early\u2010onset PD. Other populations should be examined in order to determine whether our findings are specific to the Finnish population.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15717","type":"journal-article","created":{"date-parts":[[2023,1,27]],"date-time":"2023-01-27T12:48:59Z","timestamp":1674823739000},"page":"1256-1261","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Association of biallelic <scp><i>RFC1<\/i><\/scp> expansion with early\u2010onset Parkinson's disease"],"prefix":"10.1111","volume":"30","author":[{"given":"Pauli","family":"Ylikotila","sequence":"first","affiliation":[{"name":"Clinical Neurosciences University of Turku  Turku Finland"},{"name":"Neurocenter Turku University Hospital  Turku 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