Article

Parkinson’s disease and multiple system atrophy are gateways to <i>RFC1</i>-related disorders

2025-08-25

Abstract excerpt

Biallelic pathogenic expansions of the RFC1 gene are the genetic cause of cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome. Sensory neuropathy is the most common symptom, but the clinical impairments and gateways to RFC1 -related diseases are extremely variable. We genotyped patients with parkinsonism to test the hypothesis that this condition is another such gateway. We screened four coh...

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Literature Corpus work: 0cfd0ed2-5d14-55a0-903d-fd7190902b88
DOI: 10.1101/2025.08.18.25332961

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