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Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn

Efthymiou, Stephanie; Novis, Luiz E; Koutsis, Georgios; Koniari, Chrysoula; Maroofian, Reza; Turchetti, Valentina; Velonakis, Georgios; ... Houlden, Henry; + view all (2023) Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn. Annals of Clinical and Translational Neurology 10.1002/acn3.51874. (In press). Green open access

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Abstract

Bi-allelic variants in peroxiredoxin 3 (PRDX3) have only recently been associated with autosomal recessive spinocerebellar ataxia characterized by early onset slowly progressive cerebellar ataxia, variably associated with hyperkinetic and hypokinetic features, accompanied by cerebellar atrophy and occasional olivary and brainstem involvement. Herein, we describe a further simplex case carrying a reported PRDX3 variant as well as two additional cases with novel variants. We report the first Brazilian patient with SCAR32, replicating the pathogenic status of a known variant. All presented cases from the Brazilian and Indian populations expand the phenotypic spectrum of the disease by displaying prominent neuroradiological findings. SCAR32, although rare, should be included in the differential diagnosis of sporadic or recessive childhood and adolescent-onset pure and complex cerebellar ataxia.

Type: Article
Title: Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/acn3.51874
Publisher version: https://doi.org/10.1002/acn3.51874
Language: English
Additional information: © 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. 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.
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 > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10175270
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