Open access
Jul 2026
Unraveling SPG46: Clinical, Genetic, and Neuroimaging Features.
The recurrent GBA2 c.1365G>C;p.(Trp455Cys) variant suggests a potential founder effect and expands the phenotypic spectrum of SPG46 in Brazil.
Raphael Pinheiro Camurugy da Hora, Victor Rebelo Procaci, Julian Letícia de Freitas et al.
· Movement Disorders Clinical... · 0 citations