DOI: 10.1093/braincomms/fcad233 ISSN:
Expansion of clinico-genetic spectrum of PRDX3 disease: a literature review with two additional cases
Jaeso Cho, Jihoon G Yoon, Seungbok Lee, Sheehyun Kim, Soo Yeon Kim, Man Jin Kim, Jangsup Moon, Jong-Hee Chae- Neurology
- Cellular and Molecular Neuroscience
- Biological Psychiatry
- Psychiatry and Mental health
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.