Titre :

Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS)

Auteur(s) :

Dujardin, Kathy [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Tard, Celine [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Diglé, E. [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Herlin, V. [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Mutez, Eugenie [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Davion, Jean Baptiste [Auteur]
Lille Neurosciences & Cognition - U 1172 [LilNCog]
Centre de référence des maladies rares neuromusculaires
Wissocq, A. [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Delforge, Violette [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Kuchcinski, Gregory [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Huin, Vincent [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172

Titre de la revue :

Movement Disorders

Nom court de la revue :

Mov Disord

Numéro :

39

Pagination :

892-897

Date de publication :

2024-03-14

ISSN :

1531-8257

Mot(s)-clé(s) en anglais :

cognitive impairment
cerebellum
RFC1-gene
inherited ataxia
neuropathy

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

Background Little is known about the impact of the cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) on cognition. Objective Our objective was to determine the frequency and severity of cognitive ...
Lire la suite >Background Little is known about the impact of the cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) on cognition. Objective Our objective was to determine the frequency and severity of cognitive impairment in RFC1-positive patients and describe the pattern of deficits. Methods Participants underwent a comprehensive neuropsychological assessment. Volume of the cerebellum and its lobules was measured in those who underwent a 3 Tesla-magnetic resonance scan. Results Twenty-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. Conclusion Cognitive manifestations are frequent in RFC1-related disorders. They should be included in the phenotype and screened systematically.Lire moins >

Langue :

Anglais

Audience :

Internationale

Vulgarisation :

Non

Établissement(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Date de dépôt :

2024-03-23T22:00:46Z
2024-09-05T09:25:18Z