PT - JOURNAL ARTICLE AU - Jiang, Lina AU - Zhu, Weigang AU - Zhao, Guohua AU - Cao, Lanxiao TI - Spinocerebellar ataxia type 8 presents as progressive supranuclear palsy AID - 10.17712/nsj.2023.3.20230032 DP - 2023 Jul 01 TA - Neurosciences Journal PG - 199--203 VI - 28 IP - 3 4099 - http://nsj.org.sa/content/28/3/199.short 4100 - http://nsj.org.sa/content/28/3/199.full SO - Neurosciences (Riyadh)2023 Jul 01; 28 AB - 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 65 years old without family history, and hummingbird sign in cranial MRI, initially diagnosed as progressive supranuclear palsy (PSP). But genetic test showed that one allele of ATXN8OS gene had more than 131 CTA/CTG repeats which was a full penetrance mutant. It’s possible that this is a case of PSP with an ATXN8OS gene mutation that doesn’t contribute to the phenotype. Whether the ATXN8OS gene CTA/CTG repeats cause PSP phenotype needs further investigation with larger samples and pathological findings.