RT Journal Article
SR Electronic
T1 Spinocerebellar ataxia type 8 presents as progressive supranuclear palsy
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 199
OP 203
DO 10.17712/nsj.2023.3.20230032
VO 28
IS 3
A1 Lina Jiang
A1 Weigang Zhu
A1 Guohua Zhao
A1 Lanxiao Cao
YR 2023
UL http://nsj.org.sa/content/28/3/199.abstract
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.