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.