Neuropathology of a patient with Parkinson's disease and biallelic expansion in RFC1
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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.
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Authors: Jussi Sipilä, Tuomas Rauramaa, Laura Kytövuori, Kari Majamaa
Institutions: Oulu University Hospital, Tampere University, University of Eastern Finland, Tampere University Hospital, Kuopio University Hospital, North Karelia Central Hospital