Tuomas Rauramaa

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 bila...