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Journal of Neurology

, Volume 265, Issue 6, pp 1454–1462 | Cite as

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

  • Jon Infante
  • Antonio García
  • Karla M. Serrano-Cárdenas
  • Rocío González-Aguado
  • José Gazulla
  • Enrique M. de Lucas
  • José BercianoEmail author
Original Communication

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.

Keywords

Autosomal recessive inheritance CANVAS Cerebellar ataxia Electrophysiology Friedreich ataxia Head impulse test Hereditary sensory and autonomic neuropathy Hypopallesthesia Magnetic resonance imaging Masseter reflex Muscle spindle afferents (Ia fibres) Muscle stretch reflexes OMIM Riley-day syndrome Rombergism Sensory ganglionopathy Sensory nerve action potentials Somatosensory evoked potentials Spasmodic cough Sympathetic skin responses T-reflex Vestibular function testing Vestibulo-ocular reflex 

Notes

Acknowledgements

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

Compliance with ethical standards

Conflicts of interest

The declares that they have no conflict of interest.

Ethical standard

This study was performed in accordance with ethical standards.

Supplementary material

415_2018_8872_MOESM1_ESM.doc (536 kb)
Supplementary material 1 (DOC 536 KB)
415_2018_8872_MOESM2_ESM.doc (20 kb)
Supplementary material 2 (DOC 20 KB)

Supplementary material 3 (MPG 100208 KB)

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Jon Infante
    • 1
  • Antonio García
    • 2
  • Karla M. Serrano-Cárdenas
    • 1
  • Rocío González-Aguado
    • 3
  • José Gazulla
    • 4
  • Enrique M. de Lucas
    • 5
  • José Berciano
    • 1
    • 6
    Email author
  1. 1.Service of Neurology, University Hospital “Marqués de Valdecilla (IDIVAL)”University of Cantabria, and “Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)”SantanderSpain
  2. 2.Service of Clinical NeurophysiologyUniversity Hospital “Marqués de Valdecilla (IDIVAL)”, and “Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)”SantanderSpain
  3. 3.Service of OtolaryngologyUniversity Hospital “Marqués de Valdecilla”SantanderSpain
  4. 4.Service of Neurology“Hospital Universitario Miguel Servet”ZaragozaSpain
  5. 5.Service of RadiologyUniversity Hospital “Marqués de Valdecilla”SantanderSpain
  6. 6.Professor Emeritus, Department of Medicine and Psychiatry, “Edificio Escuela Universitaria de Enfermería (cuarta planta)”University of CantabriaSantanderSpain

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