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.