دورية أكاديمية
Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn
| العنوان: | Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn |
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| المؤلفون: | 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 |
| المصدر: | Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1910-1916 (2023) |
| بيانات النشر: | Wiley, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Neurosciences. Biological psychiatry. Neuropsychiatry LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: | Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2328-9503 |
| Relation: | https://doaj.org/toc/2328-9503 |
| DOI: | 10.1002/acn3.51874 |
| URL الوصول: | https://doaj.org/article/a871963bb6444806854fed86a9acdb13 |
| رقم الأكسشن: | edsdoj.871963bb6444806854fed86a9acdb13 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 23289503 |
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| DOI: | 10.1002/acn3.51874 |