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).
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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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