Motor neuron involvement expands the neuropathological phenotype of late-onset ataxia in RFC1 mutation (CANVAS)

Brain Pathol. 2022 Jul;32(4):e13051. doi: 10.1111/bpa.13051. Epub 2022 Jan 9.


Neuropathological features in brainstem, cerebellum and spinal cord. In addition to cerebellar, vestibullar nuclei and spinal cord posterior columns involvement, a moderate reduction of motor neurons in hypoglossal nucleus and anterior horn of the thoracic spinal cord was present.

Keywords: CANVAS; RFC1 neuropathology; ataxia; vestibular.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ataxia
  • Cerebellar Ataxia* / genetics
  • Humans
  • Motor Neurons* / pathology
  • Mutation
  • Phenotype
  • Replication Protein C* / genetics


  • RFC1 protein, human
  • Replication Protein C