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Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome

Garcia-Moreno, H; Fassihi, H; Sarkany, RPE; Phukan, J; Warner, T; Lehmann, AR; Giunti, P; (2018) Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome. Annals of Clinical and Translational Neurology , 5 (1) pp. 102-108. 10.1002/acn3.511. Green open access

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Abstract

Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult-onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma. Xeroderma pigmentosum can manifest as a Huntington's Disease-like syndrome. Classic dermatological and oncological features have to be investigated in choreic patients with negative genetic tests for Huntington's disease-like phenotypes.

Type: Article
Title: Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/acn3.511
Publisher version: http://dx.doi.org/10.1002/acn3.511
Language: English
Additional information: Copyright © 2017 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
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
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
URI: http://discovery.ucl.ac.uk/id/eprint/10041418
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