Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

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

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and... 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Neurology Springer Journals

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

Download PDF
9 pages

Loading next page...
 
/lp/springer_journal/cerebellar-ataxia-neuropathy-vestibular-areflexia-syndrome-canvas-with-0my7XETH0q
Publisher
Springer Journals
Copyright
Copyright © 2018 by Springer-Verlag GmbH Germany, part of Springer Nature
Subject
Medicine & Public Health; Neurology; Neurosciences; Neuroradiology
ISSN
0340-5354
eISSN
1432-1459
DOI
10.1007/s00415-018-8872-1
pmid
29696497
Publisher site
See Article on Publisher Site

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.

Journal

Journal of Neurology – Springer Journals

Published: Apr 25, 2018

References

  • Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome
    Szmulewicz, DJ; Waterston, JA; Halmagyi, GM; Mossman, S; Chancellor, AM; McLean, CA; Storey, E
  • CANVAS an update: clinical presentation, investigation and management
    Szmulewicz, DJ; McLean, CA; MacDougall, HG; Roberts, L; Storey, E; Halmagyi, GM
  • Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)
    Szmulewicz, DJ; Roberts, L; McLean, CA; MacDougall, HG; Halmagyi, GM; Storey, E
  • Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis
    Szmulewicz, DJ; Waterston, JA; MacDougall, HG; Mossman, S; Chancellor, AM; McLean, CA; Merchant, S; Patrikios, P; Halmagyi, GM; Storey, E
  • Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
    Szmulewicz, DJ; Seiderer, L; Halmagyi, GM; Storey, E; Roberts, L
  • Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign
    Migliaccio, AA; Halmagyi, GM; McGarvie, LA; Cremer, PD
  • Sensory Neuronopathy in CANVAS: cerebellar Ataxia, Neuropathy, and Vestibular Areflexia
    Gazulla, J; Pablo-Zaro, MJ; Fraile-Rodrigo, J; Larrodé, P
  • Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS
    Szmulewicz, DJ; McLean, CA; Rodriguez, ML; Chancellor, AM; Mossman, S; Lamont, D; Roberts, L; Storey, E; Halmagyi, GM
  • Chronic cough in the Holmes-Adie syndrome: association in five cases with autonomic dysfunction
    Kimber, J; Mitchell, D; Mathias, CJ
  • Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene)
    Baloh, RH; Jen, JC; Kim, G; Baloh, RW
  • Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24
    Spring, PJ; Kok, C; Nicholson, GA; Ing, AJ; Spies, JM; Bassett, ML; Cameron, J; Kerlin, P; Bowler, S; Tuck, R; Pollard, JD
  • Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia
    Coutinho, P; Cruz, VT; Tuna, A; Silva, SE; Guimarães, J
  • Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia ‘CANVAS’ syndrome
    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
  • Friedreich’s ataxia in the south of Italy; a clinical and biochemical study survey of 23 patients
    Campanella, G; Filla, A; Falco, MA; Mansi, D; Durivage, A; BarbeauA
  • Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study
    García, A; Combarros, O; Calleja, J; Berciano, J
  • Charcot-Marie-tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study
    Berciano, J; Gallardo, E; García, A; Infante, J; Mateo, I; Combarros, O
  • Electromyographic tendon reflex recording: an accurate and comfortable method for diagnosis of Charcot-Marie-tooth disease type 1A
    García, A; Pelayo-Negro, AL; Álvarez-Paradelo, S; Antolín, FM; Berciano, J
  • Masseter reflex in the study of spinocerebellar ataxia type 2 and type 3
    García, A; Alvarez, S; Infante, J; Berciano, J
  • Evoked potentials in clinical medicine
    Chiappa, KH
  • Bilateral vestibulopathy: diagnostic criteria Consensus document of the Classification Committee of the Bárány Society
    Strupp, M; Kim, JS; Murofushi, T; Straumann, D; Jen, JC; Rosengren, SM; Della Santina, CC; Kingma, H
  • Human neuroanatomy
    Carpenter, MB
  • Sympathetic skin response
    Gutrecht, JA
  • Arnold’s nerve cough reflex: evidence for chronic cough as a sensory vagal neuropathy
    Ryan, NM; Gibson, PG; Birring, SS
  • Electromyography and neuromuscular disorders. Clinical-electrophysiologic correlations
    Preston, DC; Shapiro, BE
  • Brainstem reflexes: electrodiagnostic techniques, physiology, normative data, and clinical applications
    Aramideh, M; Ongerboer de Visser, BW
  • Preservation of the masseter reflex in Friedreich’s ataxia
    Auger, RG
  • Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia
    Berciano, J; Mateo, I; Pablos, C; Polo, JM; Combarros, O
  • Anatomically based guidelines for systematic investigation of the central somatosensory system and their application to a spinocerebellar ataxia type 2 (SCA2) patient
    Rüb, U; Schultz, C; Tredici, K; Gierga, K; Reifenberger, G; Vos, RA; Seifried, C; Braak, H; Auburger, G
  • The sensory neuropathy of Friedreich’s ataxia: an autopsy study of a case with prolonged survival
    Jitpimolmard, S; Small, J; King, RH; Geddes, J; Misra, P; McLaughlin, J; Muddle, JR; Cole, M; Harding, AE; Thomas, PK
  • Central distal axonopathy syndromes: newly recognized models of naturally occurring human degenerative disease
    Thomas, PK; Schaumburg, HH; Spencer, PS; Kaeser, HE; Pallis, CA; Rose, FC; Wadia, NH
  • Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome?
    Macefield, VG; Norcliffe-Kaufmann, L; Gutiérrez, J; Axelrod, FB; Kaufmann, H
  • The pivotal sign of CANVAS
    Petersen, JA; Wichmann, WW; Weber, KP