Article
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
Annals of clinical and translational neurology - 1 Oct 2023
Efthymiou Stephanie, Novis Luiz E, Koutsis Georgios, Koniari Chrysoula, Maroofian Reza, Turchetti Valentina, Velonakis Georgios, Vasconcellos Luiz F, Raskin Salmo, Srinivasan Varunvenkat M, Pagnamenta Alistair T, Arun Yaramanchanahalli B, Kinhal Uddhava V, Gowda Vykuntaraju K, Teive Helio A G, Houlden Henry
Abstract excerpt
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...
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