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Cognitive dysfunction and white matter hyperintensities in Fabry disease.

Murphy, P; Williams, F; Davagnanam, I; Chan, E; Murphy, E; Hughes, D; Quattrocchi, G; ... Cipolotti, L; + view all (2022) Cognitive dysfunction and white matter hyperintensities in Fabry disease. Journal of Inherited Metabolic Disease 10.1002/jimd.12472. (In press).

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J of Inher Metab Disea - 2022 - Murphy - Cognitive dysfunction and white matter hyperintensities in Fabry disease.pdf - Accepted Version
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Abstract

Fabry disease (FD) is an X-linked lysosomal storage disorder with multi-system involvement including cerebrovascular disease. Patients with FD also have a high risk of ischaemic stroke and TIA. White matter hyperintensities are common, but their clinical impact on cognition remains uncertain. Previous studies have examined the neuropsychological profile of FD, but have been inconclusive in part due to methodological limitations including small sample sizes. We sought to address these limitations in a case-control study of 26 patients with Fabry disease with mild to moderate disease symptoms matched with 18 healthy controls for age and premorbid intellectual level. We obtained detailed neuropsychological data and MRI neuroimaging data on the severity of white matter changes. Mood was accounted for as a possible confounder. Our results showed significant compromise of executive functions and information processing speed for the FD group. Error analyses suggested that the compromise of executive functions could not be entirely accounted for by slowed information processing speed. We demonstrated significant correlations between cognitive decline and the overall volume of white matter hyperintensities in the FD group. Our results point to significant compromise of cognition in FD even without stroke or mood difficulties. This suggests that neuropsychological assessment and rehabilitation should be routinely offered to patients with FD. This article is protected by copyright. All rights reserved.

Type: Article
Title: Cognitive dysfunction and white matter hyperintensities in Fabry disease.
Location: United States
DOI: 10.1002/jimd.12472
Publisher version: https://doi.org/10.1002/jimd.12472
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions.
Keywords: Fabry disease, cognition, neuropsychological testing, white matter hyperintensity
UCL classification: UCL
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 > Brain Repair and Rehabilitation
URI: https://discovery.ucl.ac.uk/id/eprint/10141832
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