Journal article
Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome
DJ Szmulewicz, JA Waterston, GM Halmagyi, S Mossman, AM Chancellor, CA McLean, E Storey
Neurology | Published : 2011
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 apparent..
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Funding Acknowledgements
Dr. Szmulewicz and Dr. Waterston report no disclosures. Dr. Halmagyi serves on the scientific board for the Brain Foundation of Australia; serves on the editorial boards of Acta Otolaryngologica, Otology, Neurotology, Audiology, Neuro-otology, and the Italian Journal of Otolaryngology; has served as a consultant for GN Otometrics; and receives research support from the National Health and Medical Research Council. Dr. Mossman reports no disclosures. Dr. Chancellor has received funding for travel from Biogen Idec and sanofi-aventis and serves on the editorial board for Practical Neurology. Dr. McLean reports no disclosures. Dr. Storey has received funding for travel (and speaker honoraria payable to his institution) from Pfizer Inc; serves as Neurology Co-Editor for Journal of Clinical Neuroscience; and receives research support from National Health and Medical Research Council (Australia), the NIH, Alfred Hospital Research Foundation, Wicking Foundation, and Bethlehem-Griffiths Foundation.