Volume 1233, Issue 1 p. 139-147

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis

David J. Szmulewicz

David J. Szmulewicz

Department of Neuroscience, Alfred Hospital, Melbourne, Australia

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John A. Waterston

John A. Waterston

Department of Neuroscience, Monash University, Melbourne, Australia

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Hamish G. MacDougall

Hamish G. MacDougall

Vestibular Research Laboratory, School of Psychology, University of Sydney, Sydney, Australia

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Stuart Mossman

Stuart Mossman

Department of Neurology, Capital Coast Health, Wellington, New Zealand

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Andrew M. Chancellor

Andrew M. Chancellor

Department of Medicine, Tauranga Hospital, Wellington, New Zealand

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Catriona A. McLean

Catriona A. McLean

Department of Anatomical Pathology, Alfred Hospital, Melbourne, Australia

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Saumil Merchant

Saumil Merchant

Department of Otopathology, Massachusetts Eye & Ear Infirmary, Boston, Massachusetts

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Peter Patrikios

Peter Patrikios

Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Australia

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G. Michael Halmagyi

G. Michael Halmagyi

Department of Neurology, Royal Prince Alfred Hospital, Sydney, Australia

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Elsdon Storey

Elsdon Storey

Department of Neuroscience, Monash University, Melbourne, Australia

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First published: 23 September 2011
Citations: 116
Dr. David J. Szmulewicz, Department of Neuroscience, Alfred Hospital, Commercial Road, Melbourne, Victoria, 3004, Australia. [email protected]

Abstract

The association of bilateral vestibulopathy with cerebellar ataxia was first reported in 1991 and delineated as a distinct syndrome with a characteristic and measurable clinical sign—an absent visually enhanced vestibulo-ocular reflex—in 2004. We reviewed 27 patients with this syndrome and show that a non-length-dependent sensory deficit with absent sensory nerve action potentials is an integral component of this syndrome, which we now call “cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome” (CANVAS). All patients had brain MRI and 22/27 had evidence of cerebellar atrophy involving anterior and dorsal vermis, as well as the hemispheric crus I. Brain and temporal bone pathology in one patient showed marked loss of Purkinje cells and of vestibular, trigeminal, and facial ganglion cells, but not of spiral ganglion cells. There are two sets of sibling pairs, suggesting CANVAS is a late-onset recessive disorder. The characteristic clinical sign—the visual vestibulo-ocular reflex deficit—can be demonstrated and measured clinically using video-oculography.