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Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome.
Neurology. 2011 May 31; 76(22):1903-10.Neur

Abstract

OBJECTIVE

The syndrome of cerebellar ataxia with bilateral vestibulopathy was delineated in 2004. Sensory neuropathy was mentioned in 3 of the 4 patients described. We aimed to characterize and estimate the frequency of neuropathy in this condition, and determine its typical MRI features.

METHODS

Retrospective review of 18 subjects (including 4 from the original description) who met the criteria for bilateral vestibulopathy with cerebellar ataxia.

RESULTS

The reported age at onset range was 39-71 years, and symptom duration was 3-38 years. The syndrome was identified in one sibling pair, suggesting that this may be a late-onset recessive disorder, although the other 16 cases were apparently sporadic. All 18 had sensory neuropathy with absent sensory nerve action potentials, although this was not apparent clinically in 2, and the presence of neuropathy was not a selection criterion. In 5, the loss of pinprick sensation was virtually global, mimicking a neuronopathy. However, findings in the other 11 with clinically manifest neuropathy suggested a length-dependent neuropathy. MRI scans showed cerebellar atrophy in 16, involving anterior and dorsal vermis, and hemispheric crus I, while 2 were normal. The inferior vermis and brainstem were spared.

CONCLUSIONS

Sensory neuropathy is an integral component of this syndrome. It may result in severe sensory loss, which contributes significantly to the disability. The MRI changes are nonspecific, but, coupled with loss of sensory nerve action potentials, may aid diagnosis. We propose a new name for the condition: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS).

Authors+Show Affiliations

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

Pub Type(s)

Journal Article

Language

eng

PubMed ID

21624989

Citation

Szmulewicz, D J., et al. "Sensory Neuropathy as Part of the Cerebellar Ataxia Neuropathy Vestibular Areflexia Syndrome." Neurology, vol. 76, no. 22, 2011, pp. 1903-10.
Szmulewicz DJ, Waterston JA, Halmagyi GM, et al. Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome. Neurology. 2011;76(22):1903-10.
Szmulewicz, D. J., Waterston, J. A., Halmagyi, G. M., Mossman, S., Chancellor, A. M., McLean, C. A., & Storey, E. (2011). Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome. Neurology, 76(22), 1903-10. https://doi.org/10.1212/WNL.0b013e31821d746e
Szmulewicz DJ, et al. Sensory Neuropathy as Part of the Cerebellar Ataxia Neuropathy Vestibular Areflexia Syndrome. Neurology. 2011 May 31;76(22):1903-10. PubMed PMID: 21624989.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome. AU - Szmulewicz,D J, AU - Waterston,J A, AU - Halmagyi,G M, AU - Mossman,S, AU - Chancellor,A M, AU - McLean,C A, AU - Storey,E, PY - 2011/6/1/entrez PY - 2011/6/1/pubmed PY - 2011/7/27/medline SP - 1903 EP - 10 JF - Neurology JO - Neurology VL - 76 IS - 22 N2 - OBJECTIVE: The syndrome of cerebellar ataxia with bilateral vestibulopathy was delineated in 2004. Sensory neuropathy was mentioned in 3 of the 4 patients described. We aimed to characterize and estimate the frequency of neuropathy in this condition, and determine its typical MRI features. METHODS: Retrospective review of 18 subjects (including 4 from the original description) who met the criteria for bilateral vestibulopathy with cerebellar ataxia. RESULTS: The reported age at onset range was 39-71 years, and symptom duration was 3-38 years. The syndrome was identified in one sibling pair, suggesting that this may be a late-onset recessive disorder, although the other 16 cases were apparently sporadic. All 18 had sensory neuropathy with absent sensory nerve action potentials, although this was not apparent clinically in 2, and the presence of neuropathy was not a selection criterion. In 5, the loss of pinprick sensation was virtually global, mimicking a neuronopathy. However, findings in the other 11 with clinically manifest neuropathy suggested a length-dependent neuropathy. MRI scans showed cerebellar atrophy in 16, involving anterior and dorsal vermis, and hemispheric crus I, while 2 were normal. The inferior vermis and brainstem were spared. CONCLUSIONS: Sensory neuropathy is an integral component of this syndrome. It may result in severe sensory loss, which contributes significantly to the disability. The MRI changes are nonspecific, but, coupled with loss of sensory nerve action potentials, may aid diagnosis. We propose a new name for the condition: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS). SN - 1526-632X UR - https://wwww.unboundmedicine.com/medline/citation/21624989/Sensory_neuropathy_as_part_of_the_cerebellar_ataxia_neuropathy_vestibular_areflexia_syndrome_ L2 - http://www.neurology.org/cgi/pmidlookup?view=long&pmid=21624989 DB - PRIME DP - Unbound Medicine ER -