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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
CANVAS an update: clinical presentation, investigation and management
David J Szmulewicz1, Catriona A McLean2, Hamish G MacDougall3
1Royal Victorian Eye & Ear Hospital, University of Melbourne, Melbourne, Australia.
Background:
Cerebellar Ataxia with Neuropathy and bilateral Vestibular Areflexia Syndrome (CANVAS) is a multi-system ataxia which results in cerebellar ataxia, a bilateral vestibulopathy and a somatosensory deficit. This sensory deficit has recently been shown to be a neuronopathy, with marked dorsal root ganglia neuronal loss. The characteristic oculomotor clinical sign is an abnormal visually enhanced vestibulo-ocular reflex.
Objective:
To outline the expanding understanding of the pathology in this condition, as well as diagnostic and management issues encountered in clinical practice.
Methods:
Retrospective data on 80 CANVAS patients is reviewed.
Results:
In addition to the triad of cerebellar impairment, bilateral vestibulopathy and a somatosensory deficit, CANVAS patients may also present with orthostatic hypotension, a chronic cough and neuropathic pain. Management of falls risk and dysphagia is a major clinical priority.
Conclusions:
CANVAS is an increasingly recognised cause of late-onset ataxia and disequilibrium, and is likely to be a recessive disorder.
