Record, Christopher J;
Alsukhni, Rana Alnasser;
Curro, Riccardo;
Kaski, Diego;
Rubin, John S;
Morris, Huw R;
Cortese, Andrea;
... Reilly, Mary M; + view all
(2022)
Severe distinct dysautonomia in RFC1-related disease associated with Parkinsonism.
Journal of the Peripheral Nervous System
, 27
(4)
pp. 311-315.
10.1111/jns.12515.
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Abstract
BACKGROUND: Biallelic repeat expansions in RFC1 have recently been found to cause cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). Additional features that have been described include Parkinsonism and a multiple system atrophy (MSA)-like syndrome. CANVAS can include features of dysautonomia, but they are much milder than typically seen in MSA. METHODS: We report a detailed autonomic phenotype of multisystem RFC1-related disease presenting initially as CANVAS. RESULTS: Our patient presented aged 61 with a sensory ataxic neuropathy who rapidly developed widespread autonomic failure and Parkinsonism. The autonomic profile was of a mixed pre- and post-ganglionic syndrome with progressive involvement of sympathetic and parasympathetic cardiovascular and sudomotor function. The Parkinsonism did not respond to levodopa. CONCLUSION: We present a patient with CANVAS and biallelic RFC1 expansions who developed Parkinsonism with severe autonomic involvement similar to that seen in classical MSA. The link between MSA and CANVAS remains uncertain. This article is protected by copyright. All rights reserved.
| Type: | Article |
|---|---|
| Title: | Severe distinct dysautonomia in RFC1-related disease associated with Parkinsonism |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1111/jns.12515 |
| Publisher version: | https://doi.org/10.1111/jns.12515 |
| Language: | English |
| Additional information: | © 2022 The Authors. Journal of the Peripheral Nervous System published by Wiley Periodicals LLC on behalf of Peripheral Nerve Society. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | CANVAS, MSA, Parkinson's, RFC1, autonomic |
| UCL classification: | UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10156834 |
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