Chrisovalantis Papadopoulos et al.
PLoS genetics, 11(4), e1005149-e1005149 (2015-04-16)
Mutations in SPAST, encoding spastin, are the most common cause of autosomal dominant hereditary spastic paraplegia (HSP). HSP is characterized by weakness and spasticity of the lower limbs, owing to progressive retrograde degeneration of the long corticospinal axons. Spastin is