INTRODUCTION: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently described multisystem ataxia defined by the presence of cerebellar ataxia, bilateral vestibulopathy, and a somatosensory deficit. The characteristic clinical sign is an abnormal visually enhanced vestibuloocular reflex. The somatosensory deficit contributes to a significant level of disability in CANVAS. METHODS: This study was a neurophysiological investigation of 14 patients with CANVAS. RESULTS: Findings revealed uniformly absent sensory nerve action potentials in all limbs, abnormal blink reflexes in 13 of 14 patients, and abnormal masseter reflexes in 6 of 11 patients. Tibial H-reflexes were absent in 11 of 14 patients. Somatosensory evoked potentials were abnormal in 10 of the 11 patients tested, and brainstem auditory evoked responses were abnormal in 3 of 8. Cutaneous silent period responses were abnormal in 7 of 14 patients. CONCLUSIONS: We suggest that a sensory neuronopathy should be sought in cerebellar and/or vestibular ataxias, particularly where the degree of ataxia is out of proportion to the clinically identified cerebellar and/or vestibular dysfunction.
INTRODUCTION:Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently described multisystem ataxia defined by the presence of cerebellar ataxia, bilateral vestibulopathy, and a somatosensory deficit. The characteristic clinical sign is an abnormal visually enhanced vestibuloocular reflex. The somatosensory deficit contributes to a significant level of disability in CANVAS. METHODS: This study was a neurophysiological investigation of 14 patients with CANVAS. RESULTS: Findings revealed uniformly absent sensory nerve action potentials in all limbs, abnormal blink reflexes in 13 of 14 patients, and abnormal masseter reflexes in 6 of 11 patients. Tibial H-reflexes were absent in 11 of 14 patients. Somatosensory evoked potentials were abnormal in 10 of the 11 patients tested, and brainstem auditory evoked responses were abnormal in 3 of 8. Cutaneous silent period responses were abnormal in 7 of 14 patients. CONCLUSIONS: We suggest that a sensory neuronopathy should be sought in cerebellar and/or vestibular ataxias, particularly where the degree of ataxia is out of proportion to the clinically identified cerebellar and/or vestibular dysfunction.
Authors: David J Szmulewicz; Leslie Roberts; Catriona A McLean; Hamish G MacDougall; G Michael Halmagyi; Elsdon Storey Journal: Neurol Clin Pract Date: 2016-02
Authors: Jon Infante; Antonio García; Karla M Serrano-Cárdenas; Rocío González-Aguado; José Gazulla; Enrique M de Lucas; José Berciano Journal: J Neurol Date: 2018-04-25 Impact factor: 4.849
Authors: Reuven Ishai; Mohammad Seyyedi; Andrew M Chancellor; Catriona A McLean; Michael L Rodriguez; Gabor Michael Halmagyi; Joseph B Nadol; David J Szmulewicz; Alicia M Quesnel Journal: Otol Neurotol Date: 2021-03-01 Impact factor: 2.619
Authors: Haloom Rafehi; David J Szmulewicz; Mark F Bennett; Nara L M Sobreira; Kate Pope; Katherine R Smith; Greta Gillies; Peter Diakumis; Egor Dolzhenko; Michael A Eberle; María García Barcina; David P Breen; Andrew M Chancellor; Phillip D Cremer; Martin B Delatycki; Brent L Fogel; Anna Hackett; G Michael Halmagyi; Solange Kapetanovic; Anthony Lang; Stuart Mossman; Weiyi Mu; Peter Patrikios; Susan L Perlman; Ian Rosemergy; Elsdon Storey; Shaun R D Watson; Michael A Wilson; David S Zee; David Valle; David J Amor; Melanie Bahlo; Paul J Lockhart Journal: Am J Hum Genet Date: 2019-06-20 Impact factor: 11.025
Authors: Laurence Weinberg; Akshay Hungenahally; Joshua Meyerov; Lachlan Fraser Miles; Daniel Robert Anthony Cox; Vijayaragavan Muralidharan Journal: Int J Surg Case Rep Date: 2021-05-29