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

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.

SCAR32: Functional characterization and expansion of the clinical‐genetic spectrum

“…For this reason, considerable attention has been paid to the role of deregulated expression and activity of antioxidant enzymes in neurodegeneration, 7 and many studies have been conducted to validate the therapeutic roles of antioxidants in ARCA. Biallelic mutations in PRDX3 have recently been reported to cause SCAR32, 11–13,39 a rare form of ARCA to date reported in only 15 patients whose clinical features and MRI findings were similar to those of our patient. Our case supports the evidence that oculomotor abnormalities occur in SCAR32, and represent, together with cerebellar ataxia, a possible red flag of the condition.…”