Two RFC1 splicing variants in CANVAS

Affiliations

¹ Medical Genetics Department, Caen University Hospital, Caen F-14033, France.
² Neurology Department, Caen University Hospital, Caen F-14033, France.
³ Basic to translational neurogenetics, Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, Paris F-75013, France.
⁴ Department of Medical Genetics, Reference Center for Rare 'Neurogenetic' Diseases, Pellegrin Hospital, Bordeaux University Hospital, Bordeaux F-33076, France.
⁵ Department of Genetics, Normandy University, UNICAEN, Caen University Hospital, EA 7450 BioTARGen, Caen F-14000, France.
⁶ Alzheimer and Tauopathies, Univ. Lille, Inserm, CHU Lille, U1172-LilNCog (JPARC)-Lille Neuroscience & Cognition, Lille F-59000, France.

Comment

Sacha Weber et al. Brain. 2023.

. 2023 Mar 1;146(3):e14-e16.

doi: 10.1093/brain/awac466.

¹ Medical Genetics Department, Caen University Hospital, Caen F-14033, France.
² Neurology Department, Caen University Hospital, Caen F-14033, France.
³ Basic to translational neurogenetics, Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, Paris F-75013, France.
⁴ Department of Medical Genetics, Reference Center for Rare 'Neurogenetic' Diseases, Pellegrin Hospital, Bordeaux University Hospital, Bordeaux F-33076, France.
⁵ Department of Genetics, Normandy University, UNICAEN, Caen University Hospital, EA 7450 BioTARGen, Caen F-14000, France.
⁶ Alzheimer and Tauopathies, Univ. Lille, Inserm, CHU Lille, U1172-LilNCog (JPARC)-Lille Neuroscience & Cognition, Lille F-59000, France.

No abstract available

Comment on

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Benkirane M, Da Cunha D, Marelli C, Larrieu L, Renaud M, Varilh J, Pointaux M, Baux D, Ardouin O, Vangoethem C, Taulan M, Daumas Duport B, Bergougnoux A, Corbillé AG, Cossée M, Juntas Morales R, Tuffery-Giraud S, Koenig M, Isidor B, Vincent MC. Benkirane M, et al. Brain. 2022 Nov 21;145(11):3770-3775. doi: 10.1093/brain/awac280. Brain. 2022. PMID: 35883251