| Title: |
Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) |
| Authors: |
Dujardin, Kathy; Tard, Celine; Diglé, E.; Herlin, V.; Mutez, Eugenie; Davion, Jean Baptiste; Wissocq, A.; Delforge, Violette; Kuchcinski, Gregory; 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 Hospitalier Régional Universitaire CHU Lille (CHRU Lille) |
| Source: |
ISSN: 0885-3185. |
| Publisher Information: |
CCSD; Wiley |
| Publication Year: |
2024 |
| Collection: |
LillOA (HAL Lille Open Archive, Université de Lille) |
| Subject Terms: |
cognitive impairment; cerebellum; RFC1-gene; inherited ataxia; neuropathy; [SDV]Life Sciences [q-bio] |
| Description: |
International audience ; BackgroundLittle is known about the impact of the cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) on cognition.ObjectiveOur objective was to determine the frequency and severity of cognitive impairment in RFC1-positive patients and describe the pattern of deficits.MethodsParticipants underwent a comprehensive neuropsychological assessment. Volume of the cerebellum and its lobules was measured in those who underwent a 3 Tesla-magnetic resonance scan.ResultsTwenty-one patients underwent a complete assessment, including 71% scoring lower than the cutoff at the Montreal Cognitive assessment and 71% having a definite cerebellar cognitive affective/Schmahmann syndrome. Three patients had dementia and seven met the criteria of mild cognitive impairment. Severity of cognitive impairment did not correlate with severity of clinical manifestations. Performance at memory and visuospatial functions tests negatively correlated with the severity of cerebellar manifestations.ConclusionCognitive manifestations are frequent in RFC1-related disorders. They should be included in the phenotype and screened systematically. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/38480525; PUBMED: 38480525 |
| DOI: |
10.1002/mds.29750 |
| Availability: |
https://hal.univ-lille.fr/hal-04688773; https://hal.univ-lille.fr/hal-04688773v1/document; https://hal.univ-lille.fr/hal-04688773v1/file/Movement%20Disorders%20-%202024%20-%20Dujardin%20-%20Cognitive%20Impairment%20Is%20Part%20of%20the%20Phenotype%20of%20Cerebellar%20Ataxia%20Neuropathy%20.pdf; https://doi.org/10.1002/mds.29750 |
| Rights: |
http://creativecommons.org/licenses/by-nc-nd/ ; info:eu-repo/semantics/OpenAccess |
| Accession Number: |
edsbas.16B02DC9 |
| Database: |
BASE |