Ghahremani Nezhad, H., Franklin, J.P., Alix, J.J.P. orcid.org/0000-0001-8391-9749 et al. (10 more authors) (2020) Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22 (7-8). pp. 579-582. ISSN 2167-8421
Abstract
Spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS) share a common molecular basis: both are associated with CAG-repeat expansion of ATXN2 and TDP-43-positive neuronal cytoplasmic inclusions. To date, the two disorders are viewed as clinically distinct with ALS resulting from 30-33 CAG-repeats and SCA2 from >34 CAG-repeats. We describe a 67-year old with a 32 CAG-repeat expansion of ATXN2 who presented with simultaneous symptoms of ALS and SCA2. Our case demonstrates that the clinical dichotomy between SCA2 and ATXN2-ALS is false. We suggest instead that CAG-repeat expansion length determines the timing of SCA2 clinical symptoms relative to onset of ALS; consistent with this age of onset of SCA2 but not ATXN2-ALS, is dependent upon expansion length. Review of the literature and our local cohort provides evidence for occurrence of ALS in late stage SCA2, which may be under-recognised by clinicians who think of the two diseases as distinct.
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Copyright, Publisher and Additional Information: | © 2020 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. | ||||
Keywords: | Risk; neurophysiology; genetics | ||||
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Institution: | The University of Sheffield | ||||
Academic Units: | The University of Sheffield > Sheffield Teaching Hospitals | ||||
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Depositing User: | Symplectic Sheffield | ||||
Date Deposited: | 26 Jan 2021 13:39 | ||||
Last Modified: | 01 Feb 2022 13:49 | ||||
Status: | Published | ||||
Publisher: | Taylor & Francis | ||||
Refereed: | Yes | ||||
Identification Number: | https://doi.org/10.1080/21678421.2020.1853172 | ||||
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