Review
Open access
Oct 2026
KCNA2-Associated Hereditary Spastic Paraplegia: Clinical Characteristics and Rationale for Targeted Treatment.
BACKGROUND A single recurrent variant, NM_004974.4(KCNA2):c.881G>A:p.(Arg294His), causes hereditary spastic paraplegia (HSP) through a unique variant-specific mechanism. Data from paralogous variants suggest that this may be a druggable mechanism. OBJECTIVE The objective of this work is to give an overview of the cli...
C. Boßelmann, M. Vyhnálek, Zuzana Blichová et al.
· Movement Disorders · 0 citations