Catalog

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

No MMS code

Link to WHO Definition

Autosomal recessive complex hereditary spastic paraplegia due to mutations in Spatacsin gene – http://id.who.int/icd/entity/793405919

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.