| Title: |
RFC1: Motifs and phenotypes. |
| Authors: |
Delforge, Violette; Tard, Celine; Davion, Jean-Baptiste; Dujardin, Kathy; Wissocq, Anna; Dhaenens, Claire-Marie; Mutez, Eugenie; Huin, Vincent |
| Contributors: |
Lille Neurosciences & Cognition - U 1172 (LilNCog); Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille); Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc); Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille |
| Source: |
ISSN: 0035-3787 ; Revue Neurologique ; https://hal.univ-lille.fr/hal-04586690 ; Revue Neurologique, 2024, Revue Neurologique, ⟨10.1016/j.neurol.2024.03.006⟩. |
| Publisher Information: |
CCSD; Elsevier Masson |
| Publication Year: |
2024 |
| Collection: |
LillOA (HAL Lille Open Archive, Université de Lille) |
| Subject Terms: |
Ataxia; DNA repeat expansion; Mutation; Phenotype; RFC1; CANVAS syndrome; [SDV]Life Sciences [q-bio] |
| Description: |
International audience ; Biallelic intronic expansions (AAGGG)exp in intron 2 of the RFC1 gene have been shown to be a common cause of late-onset ataxia. Since their first description, the phenotypes, neurological damage, and pathogenic variants associated with the RFC1 gene have been frequently updated. Here, we review the various motifs, genetic variants, and phenotypes associated with the RFC1 gene. We searched PubMed for scientific articles published between March 1st, 2019, and January 15th, 2024. The motifs and phenotypes associated with the RFC1 gene are highly heterogeneous, making molecular diagnosis and clinical screening and investigation challenging. In this review we will provide clues to give a better understanding of RFC1 disease. We briefly discuss new methods for molecular diagnosis, the origin of cough in RFC1 disease, and research perspectives. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/38627134; PUBMED: 38627134 |
| DOI: |
10.1016/j.neurol.2024.03.006 |
| Availability: |
https://hal.univ-lille.fr/hal-04586690; https://hal.univ-lille.fr/hal-04586690v1/document; https://hal.univ-lille.fr/hal-04586690v1/file/1-s2.0-S0035378724004843-main.pdf; https://doi.org/10.1016/j.neurol.2024.03.006 |
| Rights: |
http://creativecommons.org/licenses/by/ ; info:eu-repo/semantics/OpenAccess |
| Accession Number: |
edsbas.7DCCAB80 |
| Database: |
BASE |