Autosomal recessive complex hereditary spastic paraplegia due to mutations in Spatacsin gene (Q99396)

Autosomal recessive spastic paraplegia caused by a mutation in the Spatacsin gene, a transmembrane protein that is phosphorylated upon DNA damage. Cause of spastic paraplegia type 11 (SPG 11) that is characterized by slow, gradual, progressive weakness and spasticity of the lower limbs.