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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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.
KeywordsAutosomal 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
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.
This study was performed in accordance with ethical standards.
- 4.Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, Merchant S, Patrikios P, Halmagyi GM, Storey E (2011) Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. Ann N Y Acad Sci 1233:139–147CrossRefPubMedGoogle Scholar
- 11.Spring PJ, Kok C, Nicholson GA, Ing AJ, Spies JM, Bassett ML, Cameron J, Kerlin P, Bowler S, Tuck R, Pollard JD (2005) Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24. Brain 128:2797–2810CrossRefPubMedGoogle Scholar
- 13.Wu TY, Taylor JM, Kilfoyle DH, Smith AD, McGuinness BJ, Simpson MP, Walker EB, Bergin PS, Cleland JC, Hutchinson DO, Anderson NE, Snow BJ, Anderson TJ, Paermentier LA, Cutfield NJ, Chancellor AM, Mossman SS, Roxburgh RH (2014) Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia ‘CANVAS’ syndrome. Brain 137:2649–2656CrossRefPubMedGoogle Scholar
- 19.Chiappa KH (1997) Evoked potentials in clinical medicine, 3rd edn. Lippincott-Raven Press Publishers, New YorkGoogle Scholar
- 21.Carpenter MB (1976) Human neuroanatomy. Williams & Wilkins, Balitmore, pp 399–434Google Scholar
- 24.Preston DC, Shapiro BE (2005) Electromyography and neuromuscular disorders. Clinical-electrophysiologic correlations, 2nd edn. Elsevier/Butterworth Heinemann, PhiladelphiaGoogle Scholar
- 28.Rüb U, Schultz C, Del Tredici K, Gierga K, Reifenberger G, de Vos RA, Seifried C, Braak H, Auburger G (2003) Anatomically based guidelines for systematic investigation of the central somatosensory system and their application to a spinocerebellar ataxia type 2 (SCA2) patient. Neuropathol Appl Neurobiol 29:418–433CrossRefPubMedGoogle Scholar