Neuropathology of a patient with Parkinson's disease and biallelic expansion in RFC1
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 (ORCID: https://orcid.org/0000-0003-0183-9054)
- Tuomas Rauramaa (ORCID: https://orcid.org/0000-0002-2250-327X)
- Laura Kytövuori (ORCID: https://orcid.org/0000-0003-2790-5646)
- Kari Majamaa (ORCID: https://orcid.org/0000-0002-9070-3791)
Institutions
- University of Eastern Finland (FI)
- Oulu University Hospital (FI)
- North Karelia Central Hospital (FI)
- Kuopio University Hospital (FI)
- Tampere University Hospital (FI)
- Tampere University (FI)
Publication Details
- Journal
- Brain Pathology
- Published
- 2026-09-18
- DOI
- https://doi.org/10.1111/bpa.70152
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Jane ja Aatos Erkon Säätiö
- Oulun Yliopistollinen Sairaala
- Suomen Parkinson-säätiö