Case report
Open access
Sep 2026
A previously unreported ELOVL4 frameshift variant in a patient with early severe cognitive decline, parkinsonism, and cerebellar ataxia
This case describes a previously unreported ELOVL4 frameshift variant in a patient with cerebellar ataxia, parkinsonism, severe cognitive impairment, and autonomic dysfunction, and genetic testing may facilitate differentiation of hereditary ataxia from atypical degenerative syndromes.
Jing-Tong Zhou, Xiao-Hui Wen, Zhi-Jun Lin
· Medicine · 0 citations