Literature DB >> 25070514

Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome.

Teddy Y Wu1, Jennifer M Taylor2, Dean H Kilfoyle3, Andrew D Smith4, Ben J McGuinness4, Mark P Simpson3, Elizabeth B Walker3, Peter S Bergin3, James C Cleland3, David O Hutchinson3, Neil E Anderson3, Barry J Snow3, Tim J Anderson5, Laura A F Paermentier6, Nick J Cutfield7, Andrew M Chancellor8, Stuart S Mossman2, Richard H Roxburgh9.   

Abstract

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative ganglionopathy. Prompted by the presence of symptomatic postural hypotension in two patients with CANVAS, we hypothesized that autonomic dysfunction may be an associated feature of the syndrome. We assessed symptoms of autonomic dysfunction and performed autonomic nervous system testing among 26 patients from New Zealand. After excluding three patients with diabetes mellitus, 83% had evidence of autonomic dysfunction; all patients had at least one autonomic symptom and 91% had more than two symptoms. We also found a higher rate of downbeat nystagmus (65%) than previously described in CANVAS. We confirmed that sensory findings on nerve conduction tests were consistent with a sensory ganglionopathy and describe two patients with loss of trigeminal sensation consistent with previous pathological descriptions of trigeminal sensory ganglionopathy. Our results suggest that autonomic dysfunction is a major feature of CANVAS. This has implications for the management of patients with CANVAS as the autonomic symptoms may be amenable to treatment. The findings also provide an important differential diagnosis from multiple system atrophy for patients who present with ataxia and autonomic failure.
© The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Entities:  

Keywords:  CANVAS syndrome; autonomic failure; cerebellar ataxia; neuronopathy; vestibular failure

Mesh:

Substances:

Year:  2014        PMID: 25070514     DOI: 10.1093/brain/awu196

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


  17 in total

1.  A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.

Authors:  Carolin K Scriba; Sarah J Beecroft; Joshua S Clayton; Andrea Cortese; Roisin Sullivan; Wai Yan Yau; Natalia Dominik; Miriam Rodrigues; Elizabeth Walker; Zoe Dyer; Teddy Y Wu; Mark R Davis; David C Chandler; Ben Weisburd; Henry Houlden; Mary M Reilly; Nigel G Laing; Phillipa J Lamont; Richard H Roxburgh; Gianina Ravenscroft
Journal:  Brain       Date:  2020-10-01       Impact factor: 13.501

2.  Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS.

Authors:  Haruko Nakamura; Hiroshi Doi; Satomi Mitsuhashi; Satoko Miyatake; Kazutaka Katoh; Martin C Frith; Tetsuya Asano; Yosuke Kudo; Takuya Ikeda; Shun Kubota; Misako Kunii; Yu Kitazawa; Mikiko Tada; Mitsuo Okamoto; Hideto Joki; Hideyuki Takeuchi; Naomichi Matsumoto; Fumiaki Tanaka
Journal:  J Hum Genet       Date:  2020-02-18       Impact factor: 3.172

3.  Instability in Patients with CANVAS: Can Computerized Dynamic Posturography Help in Diagnosis?

Authors:  Alba Marina Milá de la Roca-Morales; Joan F Andreo-Marroig; Sofía Santos-Pérez; Andrés Soto-Varela
Journal:  J Int Adv Otol       Date:  2018-04       Impact factor: 1.017

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

Authors:  Jon Infante; Antonio García; Karla M Serrano-Cárdenas; Rocío González-Aguado; José Gazulla; Enrique M de Lucas; José Berciano
Journal:  J Neurol       Date:  2018-04-25       Impact factor: 4.849

5.  Sweat Gland Denervation in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS).

Authors:  Chizoba C Umeh; Michael Polydefkis; Vinay Chaudhry; David S Zee
Journal:  Mov Disord Clin Pract       Date:  2016-04-05

Review 6.  An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.

Authors:  Sanjog R Chintalaphani; Sandy S Pineda; Ira W Deveson; Kishore R Kumar
Journal:  Acta Neuropathol Commun       Date:  2021-05-25       Impact factor: 7.801

7.  The Pathology of the Vestibular System in CANVAS.

Authors:  Reuven Ishai; Mohammad Seyyedi; Andrew M Chancellor; Catriona A McLean; Michael L Rodriguez; Gabor Michael Halmagyi; Joseph B Nadol; David J Szmulewicz; Alicia M Quesnel
Journal:  Otol Neurotol       Date:  2021-03-01       Impact factor: 2.619

8.  A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.

Authors:  Sarah J Beecroft; Andrea Cortese; Roisin Sullivan; Wai Yan Yau; Zoe Dyer; Teddy Y Wu; Eoin Mulroy; Luciana Pelosi; Miriam Rodrigues; Rachael Taylor; Stuart Mossman; Ruth Leadbetter; James Cleland; Tim Anderson; Gianina Ravenscroft; Nigel G Laing; Henry Houlden; Mary M Reilly; Richard H Roxburgh
Journal:  Brain       Date:  2020-09-01       Impact factor: 13.501

9.  Anaesthesia techniques and advanced monitoring in CANVAS patients - Implications for postoperative morbidity and patient recovery: A case report.

Authors:  Laurence Weinberg; Akshay Hungenahally; Joshua Meyerov; Lachlan Fraser Miles; Daniel Robert Anthony Cox; Vijayaragavan Muralidharan
Journal:  Int J Surg Case Rep       Date:  2021-05-29

10.  CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions.

Authors:  Natalia Dominik; Valentina Galassi Deforie; Andrea Cortese; Henry Houlden
Journal:  J Neurol       Date:  2020-09-10       Impact factor: 4.849

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