Neuropathology of a patient with Parkinson's disease and biallelic expansion in RFC1

Jussi Sipilä; Tuomas H. Rauramaa; Laura Kytövuori; Kari Majamaa

doi:10.1111/bpa.70152

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Neuropathology of a patient with Parkinson's disease and biallelic expansion in RFC1

Jussi Sipilä, Tuomas H. Rauramaa, Laura Kytövuori, Kari Majamaa

Brain Pathology2026doi:10.1111/bpa.70152

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Abstract

This is the first report of neuropathology in biallelic RFC1 expansion-associated Parkinson's disease (PD). It shows a synucleinopathy of intraneuronal Lewy bodies consistent with the clinical PD diagnosis while neuropathological CANVAS (Cerebellar Ataxia with Neuropathy and bilateral Vestibular Areflexia) features were absent.

Authors

Jussi Sipilä#1 Tuomas H. Rauramaa#2 Laura Kytövuori#3 Kari Majamaa#4

Institutions

University of Eastern Finland Oulu University Hospital Tampere University Hospital North Karelia Central Hospital

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External reference records

10.1002/mds.27193

10.1038/s41531-021-00275-7

10.1111/ene.15717

10.1038/s41531-024-00723-0

10.1038/s41531-025-00868-6

10.1111/cge.70095

Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1 disease

10.1212/wnl.0000000000011528 · 2021

10.1111/bpa.13051

10.1212/wnl.0000000000000352

10.1093/brain/awad059

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