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.
✦ The floor
Discussion
Signed responses from readers of the wire.
No actionable change for audiology practice; this is a rare neuropathology case report with peripheral relevance to vestibular/balance clinicians who may encounter RFC1-related disorders (CANVAS syndrome).
RFC1 mutations cause CANVAS syndrome—a condition that includes vestibular loss—and understanding their neuropathological overlap with Parkinson's disease may eventually guide diagnosis and management of complex neurodegenerative presentations.
- 01First reported neuropathology case of RFC1 biallelic expansion co-occurring with Parkinson's disease.
- 02Brain autopsy showed Lewy body synucleinopathy consistent with classic Parkinson's disease.
- 03RFC1 mutations are known to cause CANVAS (cerebellar ataxia, neuropathy, vestibular areflexia).
- 04Published in Brain Pathology; highly specialized neuropathology journal.
- 05Peripheral relevance to audiologists/vestibular clinicians managing CANVAS patients.
Biallelic RFC1 expansion can co-occur with Lewy body Parkinson's disease neuropathology.
studypartially supported- PMID
- 42757740
- DOI
- 10.1111/bpa.70152.
- Journal
- Brain Pathology
- Publication type
- case_report
- Evidence level
- 4
- Sample size
- 1
- Population
- Single patient with Parkinson's disease and biallelic RFC1 expansion
- Intervention
- Neuropathological examination of brain tissue
Primary outcomes
Neuropathological characterization of Lewy body distribution and synucleinopathy in RFC1-associated Parkinson's disease