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

IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY
Stephanie Efthymiou, Luiz E. Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz F. Vasconcellos, Salmo Raskin, Varunvenkat M. Srinivasan, Alistair T. Pagnamenta, Yaramanchanahalli B. Arun, Uddhava V. Kinhal, Vykuntaraju K. Gowda, Helio A. G. Teive, Henry Houlden
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引用次数: 0

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.

Abstract Image

双等位基因PRDX3变异体引起的单纯性小脑共济失调,包括复发性p.Asp202Asn
过氧化物酶体阿霉素3(PRDX3)的双等位基因变异最近才与常染色体隐性遗传的脊髓小脑共济失调有关,其特征是早发缓慢进行性小脑共济失调,与高动力和低动力特征不同,伴有小脑萎缩和偶尔的橄榄和脑干受累。在此,我们描述了另一例携带报告的PRDX3变体的单纯型病例以及另外两例携带新变体的病例。我们报告了首例巴西SCAR32患者,该患者复制了一种已知变体的致病状态。所有来自巴西和印度人群的病例都显示出突出的神经放射学发现,从而扩大了该疾病的表型谱。SCAR32虽然罕见,但应纳入散发或隐性儿童和青少年发作的单纯和复杂小脑共济失调的鉴别诊断。
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来源期刊
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology Medicine-Neurology (clinical)
CiteScore
9.10
自引率
1.90%
发文量
218
审稿时长
8 weeks
期刊介绍: Annals of Clinical and Translational Neurology is a peer-reviewed journal for rapid dissemination of high-quality research related to all areas of neurology. The journal publishes original research and scholarly reviews focused on the mechanisms and treatments of diseases of the nervous system; high-impact topics in neurologic education; and other topics of interest to the clinical neuroscience community.
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