Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS)
Résumé
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.
Domaines
Sciences du Vivant [q-bio]
Fichier principal
Movement Disorders - 2024 - Dujardin - Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia Neuropathy .pdf (625.52 Ko)
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