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Spinocerebellar ataxia type 8 presents as progressive supranuclear palsy

Spinocerebellar ataxia type 8 is a progressive neurodegenerative disease induced by expansion of CTA/CTG repeats in an untranslated region of the ATXN8/ATXN8OS gene. We report an elderly female patient presenting with rigidity, bradykinesia, ataxia and oculomotor defect at the disease onset age of 6...

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Detalles Bibliográficos
Autores principales: Jiang, Lina, Zhu, Weigang, Zhao, Guohua, Cao, Lanxiao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10519649/
https://www.ncbi.nlm.nih.gov/pubmed/37482381
http://dx.doi.org/10.17712/nsj.2023.3.20230032