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Laura Kytövuori

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Open access Sep 2026

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 wer...

J. Sipilä, T. Rauramaa, Laura Kytövuori et al. · 0 citations

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