Article
Unraveling Isoform Complexity: The Roles of M1- and M87-Spastin in Spastic Paraplegia 4 (SPG4).
Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2025
Ramakrishnan Skandha, Mohan Neha, Dong Zhangji, Liu Mei, Qiang Liang
Abstract excerpt
Spastic Paraplegia 4 (SPG4) is a debilitating neurodegenerative disorder characterized by progressive muscle weakness and spasticity in the lower limbs, often leading to gait impairment. Central to SPG4 pathology is the die-back degeneration of corticospinal tracts, primarily driven by mutations in the spastin protein encoded by the SPAST gene. SPAST gives rise to two major spastin isoforms, M1- and M87-spastin,...
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