Published in
Oxford University Press, Brain Communications, 5(5), 2023
DOI: 10.1093/braincomms/fcad233
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Expansion of clinico-genetic spectrum of PRDX3 disease: a literature review with two additional cases
Journal article published in 2023 by
Jaeso Cho,
Jihoon G. Yoon 
,
Seungbok Lee,
Sheehyun Kim,
Soo Yeon Kim,
Man Jin Kim,
Jangsup Moon,
Jong-Hee Chae
,
Seungbok Lee,
Sheehyun Kim,
Soo Yeon Kim,
Man Jin Kim,
Jangsup Moon,
Jong-Hee Chae
This paper is made freely available by the publisher.
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Abstract
Cho et al. identified two Korean ataxia patients with novel variants, thereby broadening the clinico-genomic findings of PRDX3 disease. The novel variants (Asp171Gly and Arg207Ter) were found in compound heterozygotes with the previously reported variant (Arg170Ter). Identification of these pathogenic PRDX3 variants in East Asians highlights the need for increased awareness of PRDX3 disease.