ArticleBrain pathology (Zurich, Switzerland)2026
Neuropathology of a patient with Parkinson's disease and biallelic expansion in RFC1.
Article in Brain pathology (Zurich, Switzerland), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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4 authors.
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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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