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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres

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Abstract

The aim of this study was to describe five patients with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) with chronic cough and preserved limb muscle stretch reflexes. All five patients were in the seventh decade of age, their gait imbalance having been initiated in the fifth decade. In four patients cough antedated gait imbalance between 15 and 29 years; cough was spasmodic and triggered by variable factors. Established clinical picture included severe hypopallesthesia predominating in the lower limbs with postural imbalance, and variable degree of cerebellar axial and appendicular ataxia, dysarthria and horizontal gaze-evoked nystagmus. Upper- and lower-limb tendon jerks were preserved, whereas jaw jerk was absent. Vestibular function testing showed bilateral impairment of the vestibulo-ocular reflex. Nerve conduction studies demonstrated normal motor conduction parameters and absence or severe attenuation of sensory nerve action potentials. Somatosensory evoked potentials were absent or severely attenuated. Biceps and femoral T-reflex recordings were normal, while masseter reflex was absent or attenuated. Sympathetic skin responses were normal. Cranial MRI showed vermian and hemispheric cerebellar atrophy predominating in lobules VI, VII and VIIa. We conclude that spasmodic cough may be an integral part of the clinical picture in CANVAS, antedating the appearance of imbalance in several decades and that sparing of muscle spindle afferents (Ia fibres) is probably the pathophysiological basis of normoreflexia.

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Acknowledgements

We thank Mrs Marta de la Fuente for secretarial help. This study was supported by CIBERNED and IDIVAL.

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Author notes

  1. Jon Infante and Antonio García contributed equally to this work.

Authors and Affiliations

  1. Service of Neurology, University Hospital “Marqués de Valdecilla (IDIVAL)”, University of Cantabria, and “Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)”, Santander, Spain

    Jon Infante, Karla M. Serrano-Cárdenas & José Berciano

  2. Service of Clinical Neurophysiology, University Hospital “Marqués de Valdecilla (IDIVAL)”, and “Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)”, Santander, Spain

    Antonio García

  3. Service of Otolaryngology, University Hospital “Marqués de Valdecilla”, Santander, Spain

    Rocío González-Aguado

  4. Service of Neurology, “Hospital Universitario Miguel Servet”, Zaragoza, Spain

    José Gazulla

  5. Service of Radiology, University Hospital “Marqués de Valdecilla”, Santander, Spain

    Enrique M. de Lucas

  6. Professor Emeritus, Department of Medicine and Psychiatry, “Edificio Escuela Universitaria de Enfermería (cuarta planta)”, University of Cantabria, Avda Valdecilla s/n, 39008, Santander, Spain

    José Berciano

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  1. Jon Infante
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  2. Antonio García
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Correspondence to José Berciano.

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This study was performed in accordance with ethical standards.

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Infante, J., García, A., Serrano-Cárdenas, K.M. et al. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres. J Neurol 265, 1454–1462 (2018). https://doi.org/10.1007/s00415-018-8872-1

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  • DOI: https://doi.org/10.1007/s00415-018-8872-1

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