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

David Reyes-Leiva; Iban Aldecoa; Ellen Gelpi; Ricard Rojas-García

doi:10.1111/bpa.13051

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.

Authors

David Reyes-Leiva¹, Iban Aldecoa^{2

3}, Ellen Gelpi^{2

4}, Ricard Rojas-García¹

Affiliations

¹ Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, IIB Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain.
² Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS, Barcelona, Spain.
³ Department of Pathology, Biomedical Diagnostic Centre (CDB), Hospital Clinic - University of Barcelona, Barcelona, Spain.
⁴ Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Wien, Austria.

Abstract

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

Substances

RFC1 protein, human
Replication Protein C