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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.
J Neurol. 2018 Jun; 265(6):1454-1462.JN

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.

Authors+Show Affiliations

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.Service of Clinical Neurophysiology, University Hospital "Marqués de Valdecilla (IDIVAL)", and "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)", Santander, Spain.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.Service of Otolaryngology, University Hospital "Marqués de Valdecilla", Santander, Spain.Service of Neurology, "Hospital Universitario Miguel Servet", Zaragoza, Spain.Service of Radiology, University Hospital "Marqués de Valdecilla", Santander, Spain.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. joseberciano51@hotmail.com. Professor Emeritus, Department of Medicine and Psychiatry, "Edificio Escuela Universitaria de Enfermería (cuarta planta)", University of Cantabria, Avda Valdecilla s/n, 39008, Santander, Spain. joseberciano51@hotmail.com.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

29696497

Citation

Infante, Jon, 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." Journal of Neurology, vol. 265, no. 6, 2018, pp. 1454-1462.
Infante J, García A, Serrano-Cárdenas KM, 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. 2018;265(6):1454-1462.
Infante, J., García, A., Serrano-Cárdenas, K. M., González-Aguado, R., Gazulla, J., de Lucas, E. M., & Berciano, J. (2018). Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres. Journal of Neurology, 265(6), 1454-1462. https://doi.org/10.1007/s00415-018-8872-1
Infante J, 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. 2018;265(6):1454-1462. PubMed PMID: 29696497.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres. AU - Infante,Jon, AU - García,Antonio, AU - Serrano-Cárdenas,Karla M, AU - González-Aguado,Rocío, AU - Gazulla,José, AU - de Lucas,Enrique M, AU - Berciano,José, Y1 - 2018/04/25/ PY - 2018/03/08/received PY - 2018/04/13/accepted PY - 2018/04/12/revised PY - 2018/4/27/pubmed PY - 2018/9/28/medline PY - 2018/4/27/entrez KW - Autosomal recessive inheritance KW - CANVAS KW - Cerebellar ataxia KW - Electrophysiology KW - Friedreich ataxia KW - Head impulse test KW - Hereditary sensory and autonomic neuropathy KW - Hypopallesthesia KW - Magnetic resonance imaging KW - Masseter reflex KW - Muscle spindle afferents (Ia fibres) KW - Muscle stretch reflexes KW - OMIM KW - Riley-day syndrome KW - Rombergism KW - Sensory ganglionopathy KW - Sensory nerve action potentials KW - Somatosensory evoked potentials KW - Spasmodic cough KW - Sympathetic skin responses KW - T-reflex KW - Vestibular function testing KW - Vestibulo-ocular reflex SP - 1454 EP - 1462 JF - Journal of neurology JO - J Neurol VL - 265 IS - 6 N2 - 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. SN - 1432-1459 UR - https://wwww.unboundmedicine.com/medline/citation/29696497/Cerebellar_ataxia_neuropathy_vestibular_areflexia_syndrome__CANVAS__with_chronic_cough_and_preserved_muscle_stretch_reflexes:_evidence_for_selective_sparing_of_afferent_Ia_fibres_ DB - PRIME DP - Unbound Medicine ER -