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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis.
Ann N Y Acad Sci. 2011 Sep; 1233:139-47.AN

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.

Authors+Show Affiliations

Department of Neuroscience, Alfred Hospital, Melbourne, Australia. dsz@me.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

21950986

Citation

Szmulewicz, David J., et al. "Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS): a Review of the Clinical Features and Video-oculographic Diagnosis." Annals of the New York Academy of Sciences, vol. 1233, 2011, pp. 139-47.
Szmulewicz DJ, Waterston JA, MacDougall HG, et al. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. Ann N Y Acad Sci. 2011;1233:139-47.
Szmulewicz, D. J., Waterston, J. A., MacDougall, H. G., Mossman, S., Chancellor, A. M., McLean, C. A., Merchant, S., Patrikios, P., Halmagyi, G. M., & Storey, E. (2011). Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. Annals of the New York Academy of Sciences, 1233, 139-47. https://doi.org/10.1111/j.1749-6632.2011.06158.x
Szmulewicz DJ, et al. Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS): a Review of the Clinical Features and Video-oculographic Diagnosis. Ann N Y Acad Sci. 2011;1233:139-47. PubMed PMID: 21950986.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. AU - Szmulewicz,David J, AU - Waterston,John A, AU - MacDougall,Hamish G, AU - Mossman,Stuart, AU - Chancellor,Andrew M, AU - McLean,Catriona A, AU - Merchant,Saumil, AU - Patrikios,Peter, AU - Halmagyi,G Michael, AU - Storey,Elsdon, PY - 2011/9/29/entrez PY - 2011/9/29/pubmed PY - 2011/12/13/medline SP - 139 EP - 47 JF - Annals of the New York Academy of Sciences JO - Ann N Y Acad Sci VL - 1233 N2 - 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. SN - 1749-6632 UR - https://wwww.unboundmedicine.com/medline/citation/21950986/Cerebellar_ataxia_neuropathy_vestibular_areflexia_syndrome__CANVAS_:_a_review_of_the_clinical_features_and_video_oculographic_diagnosis_ L2 - https://doi.org/10.1111/j.1749-6632.2011.06158.x DB - PRIME DP - Unbound Medicine ER -